A0A0D9SEY3 · A0A0D9SEY3_HUMAN
- ProteinPotassium sodium-activated channel subfamily T member 1
- GeneKCNT1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids1237 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1483705202 | 3 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135736640G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736640G>A Locations: - p.Arg3Gln (Ensembl:ENST00000631073) - c.8G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1830353289 | 5 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135736645A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736645A>G Locations: - p.Lys5Glu (Ensembl:ENST00000631073) - c.13A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1830353289 | 5 | K>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135736645A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736645A>C Locations: - p.Lys5Gln (Ensembl:ENST00000631073) - c.13A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1257974015 | 7 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135736652C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736652C>T Locations: - p.Pro7Leu (Ensembl:ENST00000631073) - c.20C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1188876343 | 7 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135736651C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736651C>T Locations: - p.Pro7Ser (Ensembl:ENST00000631073) - c.19C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1830353920 | 9 | S>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135736658C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736658C>T Locations: - p.Ser9Leu (Ensembl:ENST00000631073) - c.26C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1830353790 | 9 | S>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000009.12:g.135736657T>A Codon: TCG/ACG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736657T>A Locations: - p.Ser9Thr (Ensembl:ENST00000631073) - c.25T>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1281442772 | 10 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135736661C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736661C>T Locations: - p.Pro10Leu (Ensembl:ENST00000631073) - c.29C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1281442772 | 10 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135736661C>G Codon: CCG/CGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736661C>G Locations: - p.Pro10Arg (Ensembl:ENST00000631073) - c.29C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1315899184 | 12 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135736666G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736666G>A Locations: - p.Glu12Lys (Ensembl:ENST00000631073) - c.34G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1564332184 | 13 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000009.12:g.135736669G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736669G>A Locations: - p.Gly13Ser (Ensembl:ENST00000631073) - c.37G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1830355117 | 16 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.135736679G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736679G>T Locations: - p.Gly16Val (Ensembl:ENST00000631073) - c.47G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53704086 | 17 | P>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135736682C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135736682C>G Locations: - p.Pro17Arg (cosmic curated:ENST00000631073) - c.50C>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1303158281 | 18 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000009.12:g.135736685G>T Codon: GGG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736685G>T Locations: - p.Gly18Val (Ensembl:ENST00000631073) - c.53G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1410153884 | 18 | G>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.331) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135736684G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736684G>T Locations: - p.Gly18Trp (Ensembl:ENST00000631073) - c.52G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1830355785 | 19 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.22) Somatic: No Accession: NC_000009.12:g.135736688G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736688G>A Locations: - p.Gly19Asp (Ensembl:ENST00000631073) - c.56G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1034344762 | 19 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.4) Somatic: No Accession: NC_000009.12:g.135736687G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736687G>A Locations: - p.Gly19Ser (Ensembl:ENST00000631073) - c.55G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1830355992 | 20 | A>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000009.12:g.135736691C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736691C>G Locations: - p.Ala20Gly (Ensembl:ENST00000631073) - c.59C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1161445367 | 20 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.135736690G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736690G>C Locations: - p.Ala20Pro (Ensembl:ENST00000631073) - c.58G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1161445367 | 20 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000009.12:g.135736690G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736690G>A Locations: - p.Ala20Thr (Ensembl:ENST00000631073) - c.58G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs2131373109 | 21 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135736693C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736693C>T Locations: - p.Pro21Ser (Ensembl:ENST00000631073) - c.61C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1830356246 | 23 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000009.12:g.135736700G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736700G>A Locations: - p.Gly23Asp (Ensembl:ENST00000631073) - c.68G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1174802265 | 24 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.57) Somatic: No Accession: NC_000009.12:g.135736702G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736702G>A Locations: - p.Ala24Thr (Ensembl:ENST00000631073) - c.70G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs113539839 | 25 | A>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135736706C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736706C>G Locations: - p.Ala25Gly (Ensembl:ENST00000631073) - c.74C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1257317780 | 25 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000009.12:g.135736705G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736705G>A Locations: - p.Ala25Thr (Ensembl:ENST00000631073) - c.73G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs113539839 | 25 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000009.12:g.135736706C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736706C>T Locations: - p.Ala25Val (Ensembl:ENST00000631073) - c.74C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1830356847 | 26 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135736709C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736709C>T Locations: - p.Ala26Val (Ensembl:ENST00000631073) - c.77C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1014352531 | 27 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000009.12:g.135736712C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736712C>G Locations: - p.Pro27Arg (Ensembl:ENST00000631073) - c.80C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1356883613 | 27 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.51) Somatic: No Accession: NC_000009.12:g.135736711C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736711C>T Locations: - p.Pro27Ser (Ensembl:ENST00000631073) - c.79C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1830357346 | 32 | G>W | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000009.12:g.135736726G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736726G>T Locations: - p.Gly32Trp (Ensembl:ENST00000631073) - c.94G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1210099687 | 34 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.946) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135736734C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736734C>A Locations: - p.Ser34Arg (Ensembl:ENST00000631073) - c.102C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs967976864 | 35 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.112) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135736735C>A Codon: CCG/ACG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736735C>A Locations: - p.Pro35Thr (Ensembl:ENST00000631073) - c.103C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1830357854 | 36 | L>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135736739T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736739T>A Locations: - p.Leu36Gln (Ensembl:ENST00000631073) - c.107T>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs547964274 | 38 | P>L | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.172) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000009.12:g.135736745C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736745C>T Locations: - p.Pro38Leu (Ensembl:ENST00000631073) - c.113C>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs547964274 | 38 | P>Q | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000009.12:g.135736745C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736745C>A Locations: - p.Pro38Gln (Ensembl:ENST00000631073) - c.113C>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1231396213 | 38 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000009.12:g.135736744C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736744C>T Locations: - p.Pro38Ser (Ensembl:ENST00000631073) - c.112C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1313241319 | 40 | R>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.18) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135736750C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736750C>T Locations: - p.Arg40Cys (Ensembl:ENST00000631073) - c.118C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1381425419 | 41 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.71) Somatic: No Accession: NC_000009.12:g.135736753G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736753G>A Locations: - p.Gly41Ser (Ensembl:ENST00000631073) - c.121G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1830358681 | 42 | G>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000009.12:g.135736757G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736757G>A Locations: - p.Gly42Glu (Ensembl:ENST00000631073) - c.125G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1830358561 | 42 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000009.12:g.135736756G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736756G>A Locations: - p.Gly42Arg (Ensembl:ENST00000631073) - c.124G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1830358796 | 43 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.409) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135736760G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736760G>A Locations: - p.Gly43Asp (Ensembl:ENST00000631073) - c.128G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1830358796 | 43 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135736760G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736760G>T Locations: - p.Gly43Val (Ensembl:ENST00000631073) - c.128G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1830359066 | 44 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135736762T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736762T>C Locations: - p.Ser44Pro (Ensembl:ENST00000631073) - c.130T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs2131373264 | 45 | V>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000009.12:g.135736765G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736765G>C Locations: - p.Val45Leu (Ensembl:ENST00000631073) - c.133G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1290818493 | 47 | S>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135736771A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736771A>G Locations: - p.Ser47Gly (Ensembl:ENST00000631073) - c.139A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1830359617 | 49 | V>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000009.12:g.135736778T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736778T>C Locations: - p.Val49Ala (Ensembl:ENST00000631073) - c.146T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs926236598 | 49 | V>L | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000009.12:g.135736777G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736777G>T Locations: - p.Val49Leu (Ensembl:ENST00000631073) - c.145G>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs926236598 | 49 | V>M | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.08) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135736777G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736777G>A Locations: - p.Val49Met (Ensembl:ENST00000631073) - c.145G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1830359885 | 50 | G>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135736781G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736781G>A Locations: - p.Gly50Asp (Ensembl:ENST00000631073) - c.149G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1830359742 | 50 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135736780G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135736780G>A Locations: - p.Gly50Ser (Ensembl:ENST00000631073) - c.148G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs957996086 | 54 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135742776C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135742776C>T Locations: - p.Pro54Ser (Ensembl:ENST00000631073) - c.160C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs988103241 | 56 | E>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135742782G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135742782G>T Locations: - p.Glu56Ter (Ensembl:ENST00000631073) - c.166G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs988103241 | 56 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135742782G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135742782G>A Locations: - p.Glu56Lys (Ensembl:ENST00000631073) - c.166G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1202807343 | 58 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.266) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.135742788T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135742788T>C Locations: - p.Phe58Leu (Ensembl:ENST00000631073) - c.172T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1830633441 | 59 | S>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.66) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135742792G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135742792G>T Locations: - p.Ser59Ile (Ensembl:ENST00000631073) - c.176G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1830633647 | 61 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000009.12:g.135742799C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135742799C>G Locations: - p.Asp61Glu (Ensembl:ENST00000631073) - c.183C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1450941242 | 61 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135742797G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135742797G>A Locations: - p.Asp61Asn (Ensembl:ENST00000631073) - c.181G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs768849605 | 62 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135742801C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135742801C>T Locations: - p.Ser62Phe (Ensembl:ENST00000631073) - c.185C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1468699102 | 65 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.273) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135742810C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135742810C>T Locations: - p.Ser65Phe (Ensembl:ENST00000631073) - c.194C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001947128 RCV003487813 rs1172819191 | 67 | V>I | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.624) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135750099G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750099G>A Locations: - p.Val67Ile (Ensembl:ENST00000631073) - c.199G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs567041377 | 68 | Q>* | 1000Genomes ExAC | ||||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000009.12:g.135750102C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750102C>T Locations: - p.Gln68Ter (Ensembl:ENST00000631073) - c.202C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53703532 | 69 | V>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135750105G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135750105G>T Locations: - p.Val69Leu (cosmic curated:ENST00000631073) - c.205G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs746788900 | 69 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135750105G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750105G>A Locations: - p.Val69Met (Ensembl:ENST00000631073) - c.205G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99705001 | 70 | E>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135750110G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135750110G>C Locations: - p.Glu70Asp (cosmic curated:ENST00000631073) - c.210G>C (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53699122 COSV53695892 | 71 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated NCI-TCGA Cosmic | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135750111T>C, NC_000009.12:g.135750113C>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750111T>C, NC_000009.12:g.135750113C>A Locations: - p.Phe71Leu (cosmic curated:ENST00000631073) - c.211T>C (cosmic curated:ENST00000631073) - p.F71L (NCI-TCGA:ENST00000631073) - c.213C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001296310 rs1049280147 | 72 | Y>C | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135750115A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750115A>G Locations: - p.Tyr72Cys (Ensembl:ENST00000631073) - c.215A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV99706130 | 72 | Y>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135750114T>G Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750114T>G Locations: - p.Y72D (NCI-TCGA:ENST00000631073) - p.Tyr72Asp (cosmic curated:ENST00000631073) - c.214T>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs759075818 | 73 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.517) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135750118T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750118T>C Locations: - p.Val73Ala (Ensembl:ENST00000631073) - c.218T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53698199 RCV000992238 RCV001202825 RCV002271149 RCV002271150 rs776233220 | 73 | V>I | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.517) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001196 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135750117G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750117G>A Locations: - p.V73I (NCI-TCGA:ENST00000631073) - p.Val73Ile (Ensembl:ENST00000631073) - c.217G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53698718 rs1831065611 | 75 | E>K | Variant of uncertain significance (Ensembl) | cosmic curated TOPMed | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.687) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135750123G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750123G>A Locations: - p.Glu75Lys (Ensembl:ENST00000631073) - c.223G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1831065813 | 76 | N>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.723) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135750126A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750126A>G Locations: - p.Asn76Asp (Ensembl:ENST00000631073) - c.226A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1251216753 | 78 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135750132T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750132T>C Locations: - p.Phe78Leu (Ensembl:ENST00000631073) - c.232T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA243474 COSV99036678 RCV000177321 RCV001852188 rs752032951 | 81 | R>Q | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.687) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000009.12:g.135750142G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750142G>A Locations: - p.Arg81Gln (Ensembl:ENST00000631073) - c.242G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53698088 RCV001295351 RCV002512150 rs1831067002 | 81 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135750141C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750141C>T Locations: - p.R81W (NCI-TCGA:ENST00000631073) - p.Arg81Trp (Ensembl:ENST00000631073) - c.241C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1179052822 | 83 | K>E | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.213) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135750147A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750147A>G Locations: - p.Lys83Glu (Ensembl:ENST00000631073) - c.247A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53703494 | 83 | K>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135750148A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135750148A>G Locations: - p.Lys83Arg (cosmic curated:ENST00000631073) - c.248A>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99705549 | 85 | F>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135750155C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135750155C>A Locations: - p.Phe85Leu (cosmic curated:ENST00000631073) - c.255C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53710008 | 86 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135750156T>C Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750156T>C Locations: - p.F86L (NCI-TCGA:ENST00000631073) - p.Phe86Leu (cosmic curated:ENST00000631073) - c.256T>C (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1453997871 | 87 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.558) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135750160T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750160T>C Locations: - p.Ile87Thr (Ensembl:ENST00000631073) - c.260T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53705425 | 88 | K>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135750162A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135750162A>C Locations: - p.Lys88Gln (cosmic curated:ENST00000631073) - c.262A>C (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1194442601 | 88 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.184) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135750163A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750163A>G Locations: - p.Lys88Arg (Ensembl:ENST00000631073) - c.263A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1479813399 | 89 | N>K | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.787) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135750167C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750167C>A Locations: - p.Asn89Lys (Ensembl:ENST00000631073) - c.267C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1831068622 | 90 | Q>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135750168C>A Codon: CAA/AAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750168C>A Locations: - p.Gln90Lys (Ensembl:ENST00000631073) - c.268C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99706537 | 92 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135750175C>T Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750175C>T Locations: - p.S92L (NCI-TCGA:ENST00000631073) - p.Ser92Leu (cosmic curated:ENST00000631073) - c.275C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53702598 | 92 | S>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135750174T>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750174T>A Locations: - p.S92T (NCI-TCGA:ENST00000631073) - p.Ser92Thr (cosmic curated:ENST00000631073) - c.274T>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1241363472 | 93 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.877) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135750942G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750942G>A Locations: - p.Ser93Asn (Ensembl:ENST00000631073) - c.278G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000824132 rs1588309597 | 94 | L>Q | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135750945T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750945T>A Locations: - p.Leu94Gln (Ensembl:ENST00000631073) - c.281T>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs779555407 | 96 | I>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135750952C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750952C>G Locations: - p.Ile96Met (Ensembl:ENST00000631073) - c.288C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99705565 | 96 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135750950A>G Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750950A>G Locations: - p.I96V (NCI-TCGA:ENST00000631073) - p.Ile96Val (cosmic curated:ENST00000631073) - c.286A>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs748873120 | 97 | R>P | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135750954G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750954G>C Locations: - p.Arg97Pro (Ensembl:ENST00000631073) - c.290G>C (Ensembl:ENST00000631073) Source type: large scale study | |||||||
RCV001893615 rs748873120 | 97 | R>Q | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135750954G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750954G>A Locations: - p.Arg97Gln (Ensembl:ENST00000631073) - c.290G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV53697267 RCV001219586 RCV002466636 rs1588309625 | 97 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135750953C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750953C>T Locations: - p.R97W (NCI-TCGA:ENST00000631073) - p.Arg97Trp (Ensembl:ENST00000631073) - c.289C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs768013858 | 99 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135750959T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750959T>C Locations: - p.Phe99Leu (Ensembl:ENST00000631073) - c.295T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001768535 RCV002540248 rs1831125430 | 100 | N>K | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.476) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135750964C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750964C>A Locations: - p.Asn100Lys (Ensembl:ENST00000631073) - c.300C>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1165053317 | 100 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.862) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135750963A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750963A>G Locations: - p.Asn100Ser (Ensembl:ENST00000631073) - c.299A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV106394623 | 102 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135750969C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135750969C>T Locations: - p.Ser102Phe (cosmic curated:ENST00000631073) - c.305C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53712420 | 102 | S>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135750969C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135750969C>A Locations: - p.Ser102Tyr (cosmic curated:ENST00000631073) - c.305C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1415252344 | 105 | L>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.878) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135750977C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750977C>A Locations: - p.Leu105Met (Ensembl:ENST00000631073) - c.313C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1415252344 | 105 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000009.12:g.135750977C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750977C>G Locations: - p.Leu105Val (Ensembl:ENST00000631073) - c.313C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1346233148 | 107 | T>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.83) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135750983A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750983A>C Locations: - p.Thr107Pro (Ensembl:ENST00000631073) - c.319A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1346233148 | 107 | T>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000009.12:g.135750983A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750983A>T Locations: - p.Thr107Ser (Ensembl:ENST00000631073) - c.319A>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs2131411208 | 108 | C>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135750986T>A Codon: TGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750986T>A Locations: - p.Cys108Ser (Ensembl:ENST00000631073) - c.322T>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53710149 rs1299714104 | 108 | C>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135750987G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750987G>A Locations: - p.C108Y (NCI-TCGA:ENST00000631073) - p.Cys108Tyr (Ensembl:ENST00000631073) - c.323G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV53709360 | 109 | L>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135750989C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135750989C>A Locations: - p.Leu109Met (cosmic curated:ENST00000631073) - c.325C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1402206752 | 110 | L>F | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135750992C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750992C>T Locations: - p.Leu110Phe (Ensembl:ENST00000631073) - c.328C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000688139 RCV001310684 RCV002270965 RCV002270966 rs1402206752 | 110 | L>I | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135750992C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750992C>A Locations: - p.Leu110Ile (Ensembl:ENST00000631073) - c.328C>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV000992239 RCV002271151 RCV002271152 RCV003769313 rs1402206752 | 110 | L>V | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.928) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135750992C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750992C>G Locations: - p.Leu110Val (Ensembl:ENST00000631073) - c.328C>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1311387075 | 112 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.718) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135750999T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750999T>C Locations: - p.Ile112Thr (Ensembl:ENST00000631073) - c.335T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1831128937 | 112 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135750998A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135750998A>G Locations: - p.Ile112Val (Ensembl:ENST00000631073) - c.334A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs772699770 | 113 | V>L | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000009.12:g.135751001G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135751001G>C Locations: - p.Val113Leu (Ensembl:ENST00000631073) - c.337G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs772699770 | 113 | V>M | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.484) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135751001G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135751001G>A Locations: - p.Val113Met (Ensembl:ENST00000631073) - c.337G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99707226 rs773766129 | 114 | R>C | Variant of uncertain significance (Ensembl) | cosmic curated ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135751004C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135751004C>T Locations: - p.Arg114Cys (Ensembl:ENST00000631073) - c.340C>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV99705676 RCV000802828 RCV002292582 rs201295824 | 114 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Population frequencies: - MAF: 0.00003598 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135751005G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135751005G>A Locations: - p.R114H (NCI-TCGA:ENST00000631073) - p.Arg114His (Ensembl:ENST00000631073) - c.341G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs773766129 | 114 | R>S | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135751004C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135751004C>A Locations: - p.Arg114Ser (Ensembl:ENST00000631073) - c.340C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001214419 rs766663683 | 115 | V>F | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135751007G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135751007G>T Locations: - p.Val115Phe (Ensembl:ENST00000631073) - c.343G>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs776675825 | 115 | V>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135751008T>G Codon: GTC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135751008T>G Locations: - p.Val115Gly (Ensembl:ENST00000631073) - c.344T>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5326400 COSV53709929 RCV000650629 rs766663683 | 115 | V>I | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.938) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135751007G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135751007G>A Locations: - p.Val115Ile (Ensembl:ENST00000631073) - c.343G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs765241934 | 118 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000009.12:g.135751018T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135751018T>A Locations: - p.Asp118Glu (Ensembl:ENST00000631073) - c.354T>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53707556 | 118 | D>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135751016G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135751016G>A Locations: - p.Asp118Asn (cosmic curated:ENST00000631073) - c.352G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53707875 | 118 | D>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135751017A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135751017A>T Locations: - p.Asp118Val (cosmic curated:ENST00000631073) - c.353A>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs751504173 | 120 | P>L | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135751023C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135751023C>T Locations: - p.Pro120Leu (Ensembl:ENST00000631073) - c.359C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53708963 | 120 | P>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135751023C>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135751023C>A Locations: - p.P120Q (NCI-TCGA:ENST00000631073) - p.Pro120Gln (cosmic curated:ENST00000631073) - c.359C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV105045326 | 120 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135751022C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135751022C>T Locations: - p.Pro120Ser (cosmic curated:ENST00000631073) - c.358C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1188497262 | 121 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000009.12:g.135751025G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135751025G>T Locations: - p.Ala121Ser (Ensembl:ENST00000631073) - c.361G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001886338 rs2131411420 | 121 | A>V | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000009.12:g.135751026C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135751026C>T Locations: - p.Ala121Val (Ensembl:ENST00000631073) - c.362C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV99706623 | 122 | L>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135751028C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135751028C>A Locations: - p.Leu122Met (cosmic curated:ENST00000631073) - c.364C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53700186 | 123 | G>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135751032G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135751032G>A Locations: - p.Gly123Asp (cosmic curated:ENST00000631073) - c.368G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV002010661 rs1831131534 | 123 | G>V | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135751032G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135751032G>T Locations: - p.Gly123Val (Ensembl:ENST00000631073) - c.368G>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV53711457 | 125 | G>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135751037G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135751037G>T Locations: - p.Gly125Ter (cosmic curated:ENST00000631073) - c.373G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53708712 RCV001227616 rs1157678641 | 125 | G>R | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135751037G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135751037G>A Locations: - p.Gly125Arg (Ensembl:ENST00000631073) - c.373G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV001346065 rs1831132002 | 126 | C>Y | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135751041G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135751041G>A Locations: - p.Cys126Tyr (Ensembl:ENST00000631073) - c.377G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV99706995 | 127 | W>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135753939G>T Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135753939G>T Locations: - p.W127L (NCI-TCGA:ENST00000631073) - p.Trp127Leu (cosmic curated:ENST00000631073) - c.380G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53708438 | 130 | P>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135753948C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135753948C>T Locations: - p.Pro130Leu (cosmic curated:ENST00000631073) - c.389C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs2131422856 | 131 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.094) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135753950A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135753950A>G Locations: - p.Lys131Glu (Ensembl:ENST00000631073) - c.391A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1382557245 | 132 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135753953C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135753953C>T Locations: - p.Gln132Ter (Ensembl:ENST00000631073) - c.394C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001787619 rs1831337399 | 132 | Q>H | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.09) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135753955G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135753955G>C Locations: - p.Gln132His (Ensembl:ENST00000631073) - c.396G>C (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV99036669 | 132 | Q>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135753954A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135753954A>T Locations: - p.Gln132Leu (cosmic curated:ENST00000631073) - c.395A>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001264664 rs1831337271 | 132 | Q>R | Likely benign (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000009.12:g.135753954A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135753954A>G Locations: - p.Gln132Arg (Ensembl:ENST00000631073) - c.395A>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV53695051 | 133 | N>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135753958C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135753958C>A Locations: - p.Asn133Lys (cosmic curated:ENST00000631073) - c.399C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001867451 rs757995472 | 134 | Y>H | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135753959T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135753959T>C Locations: - p.Tyr134His (Ensembl:ENST00000631073) - c.400T>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV53707324 | 135 | S>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135753962T>C Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135753962T>C Locations: - p.S135P (NCI-TCGA:ENST00000631073) - p.Ser135Pro (cosmic curated:ENST00000631073) - c.403T>C (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs776438645 | 136 | F>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000009.12:g.135753965T>A Codon: TTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135753965T>A Locations: - p.Phe136Ile (Ensembl:ENST00000631073) - c.406T>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001485603 rs200632957 | 137 | N>S | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.25) Somatic: No Population frequencies: - MAF: 0.00026 (ClinVar) Accession: NC_000009.12:g.135753969A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135753969A>G Locations: - p.Asn137Ser (Ensembl:ENST00000631073) - c.410A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs925148475 | 138 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.54) Somatic: No Accession: NC_000009.12:g.135753972A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135753972A>G Locations: - p.Asp138Gly (Ensembl:ENST00000631073) - c.413A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53704218 | 139 | S>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135753975C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135753975C>A Locations: - p.Ser139Ter (cosmic curated:ENST00000631073) - c.416C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53704218 COSV53706147 RCV001920578 rs751075368 | 139 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious - low confidence (0.04) Somatic: Yes Population frequencies: - MAF: 0.00001194 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135753975C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135753975C>T Locations: - p.S139L (NCI-TCGA:ENST00000631073) - p.Ser139Leu (Ensembl:ENST00000631073) - c.416C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV002039764 rs2131422984 | 140 | S>F | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135753978C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135753978C>T Locations: - p.Ser140Phe (Ensembl:ENST00000631073) - c.419C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53695604 | 141 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135753981C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135753981C>T Locations: - p.Ser141Phe (cosmic curated:ENST00000631073) - c.422C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99705558 RCV001236232 rs770108075 | 142 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.24) Somatic: Yes Population frequencies: - MAF: 0.00001194 (gnomAD) - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135753983G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135753983G>A Locations: - p.E142K (NCI-TCGA:ENST00000631073) - p.Glu142Lys (Ensembl:ENST00000631073) - c.424G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs780280853 | 144 | N>S | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135753990A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135753990A>G Locations: - p.Asn144Ser (Ensembl:ENST00000631073) - c.431A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53700796 COSV99705729 | 146 | A>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135755123C>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135755123C>A Locations: - p.A146D (NCI-TCGA:ENST00000631073) - p.Ala146Asp (cosmic curated:ENST00000631073) - c.437C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs149908455 | 146 | A>S | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.54) Somatic: No Accession: NC_000009.12:g.135755122G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135755122G>T Locations: - p.Ala146Ser (Ensembl:ENST00000631073) - c.436G>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
RCV001986194 RCV002335025 rs149908455 | 146 | A>T | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.05) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135755122G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135755122G>A Locations: - p.Ala146Thr (Ensembl:ENST00000631073) - c.436G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
COSV53700796 COSV99705729 RCV002029297 rs1359744304 | 146 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135755123C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135755123C>T Locations: - p.A146V (NCI-TCGA:ENST00000631073) - p.Ala146Val (Ensembl:ENST00000631073) - c.437C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs761255519 | 147 | P>L | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.28) Somatic: No Accession: NC_000009.12:g.135755126C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135755126C>T Locations: - p.Pro147Leu (Ensembl:ENST00000631073) - c.440C>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV53704435 | 147 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135755125C>T Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135755125C>T Locations: - p.P147S (NCI-TCGA:ENST00000631073) - p.Pro147Ser (cosmic curated:ENST00000631073) - c.439C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99706490 | 149 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135755131C>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135755131C>A Locations: - p.L149M (NCI-TCGA:ENST00000631073) - p.Leu149Met (cosmic curated:ENST00000631073) - c.445C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99704860 | 149 | L>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135755132T>C Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135755132T>C Locations: - p.L149P (NCI-TCGA:ENST00000631073) - p.Leu149Pro (cosmic curated:ENST00000631073) - c.446T>C (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1831399438 | 150 | W>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135755136G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135755136G>A Locations: - p.Trp150Ter (Ensembl:ENST00000631073) - c.450G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53701283 | 152 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135755140G>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135755140G>A Locations: - p.E152K (NCI-TCGA:ENST00000631073) - p.Glu152Lys (cosmic curated:ENST00000631073) - c.454G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs750936339 | 154 | K>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.096) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.135755146A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135755146A>C Locations: - p.Lys154Gln (Ensembl:ENST00000631073) - c.460A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001981914 rs1028292080 | 154 | K>R | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.16) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135755147A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135755147A>G Locations: - p.Lys154Arg (Ensembl:ENST00000631073) - c.461A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
CA5326487 RCV000425920 RCV000444916 RCV001081817 RCV002313959 RCV003939883 rs147551342 | 155 | M>I | KCNT1-related disorder (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.05) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) - MAF: 0.000196232 (1000Genomes) Accession: NC_000009.12:g.135755151G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135755151G>A Locations: - p.Met155Ile (Ensembl:ENST00000631073) - c.465G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases - KCNT1-related disorder Source type: large scale study | |||||||
rs1831400330 | 155 | M>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000009.12:g.135755149A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135755149A>T Locations: - p.Met155Leu (Ensembl:ENST00000631073) - c.463A>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53699205 | 156 | T>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135755153C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135755153C>T Locations: - p.Thr156Ile (cosmic curated:ENST00000631073) - c.467C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1831401093 | 157 | L>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135755156T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135755156T>A Locations: - p.Leu157Gln (Ensembl:ENST00000631073) - c.470T>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1395075330 | 157 | L>V | Likely benign (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000009.12:g.135755155C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135755155C>G Locations: - p.Leu157Val (Ensembl:ENST00000631073) - c.469C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5326488 COSV104375600 RCV000419340 RCV000865839 RCV002270412 RCV002270413 RCV003932664 rs141961737 | 159 | A>V | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) KCNT1-related disorder (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.23) Somatic: Yes Population frequencies: - MAF: 0.0004 (ClinVar) Accession: NC_000009.12:g.135755162C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135755162C>T Locations: - p.Ala159Val (Ensembl:ENST00000631073) - c.476C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - KCNT1-related disorder Source type: large scale study Cross-references: | |||||||
COSV99705902 | 160 | I>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135755164A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135755164A>G Locations: - p.Ile160Val (cosmic curated:ENST00000631073) - c.478A>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001305134 rs751729308 | 164 | V>M | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.137) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135756879G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135756879G>A Locations: - p.Val164Met (Ensembl:ENST00000631073) - c.490G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV001295741 rs757371759 | 165 | A>S | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135756882G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135756882G>T Locations: - p.Ala165Ser (Ensembl:ENST00000631073) - c.493G>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV99707276 | 165 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135756883C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135756883C>T Locations: - p.Ala165Val (cosmic curated:ENST00000631073) - c.494C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001338211 rs1588321846 | 166 | I>M | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.135756887A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135756887A>G Locations: - p.Ile166Met (Ensembl:ENST00000631073) - c.498A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001370849 rs2131434707 | 166 | I>V | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000009.12:g.135756885A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135756885A>G Locations: - p.Ile166Val (Ensembl:ENST00000631073) - c.496A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs780164645 | 167 | I>M | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135756890A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135756890A>G Locations: - p.Ile167Met (Ensembl:ENST00000631073) - c.501A>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1831515251 | 167 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.92) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135756889T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135756889T>C Locations: - p.Ile167Thr (Ensembl:ENST00000631073) - c.500T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001934633 RCV002548069 rs1831515095 | 167 | I>V | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.15) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135756888A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135756888A>G Locations: - p.Ile167Val (Ensembl:ENST00000631073) - c.499A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study Cross-references: | |||||||
COSV53706058 | 168 | S>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135756892G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135756892G>T Locations: - p.Ser168Ile (cosmic curated:ENST00000631073) - c.503G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1831515528 | 169 | F>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.114) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135756895T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135756895T>C Locations: - p.Phe169Ser (Ensembl:ENST00000631073) - c.506T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001883734 rs749194581 | 170 | L>P | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135756898T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135756898T>C Locations: - p.Leu170Pro (Ensembl:ENST00000631073) - c.509T>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1831515969 | 171 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135756902G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135756902G>C Locations: - p.Glu171Asp (Ensembl:ENST00000631073) - c.513G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53701270 RCV001987768 RCV002562956 rs1429039180 | 172 | T>M | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.884) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135756904C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135756904C>T Locations: - p.Thr172Met (Ensembl:ENST00000631073) - c.515C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
CA375497055 RCV000523372 rs1429039180 | 172 | T>R | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.08) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135756904C>G Codon: ACG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135756904C>G Locations: - p.Thr172Arg (Ensembl:ENST00000631073) - c.515C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1831516100 | 172 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135756903A>T Codon: ACG/TCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135756903A>T Locations: - p.Thr172Ser (Ensembl:ENST00000631073) - c.514A>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1564351394 | 173 | M>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135756906A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135756906A>T Locations: - p.Met173Leu (Ensembl:ENST00000631073) - c.517A>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1831516859 | 174 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135756910T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135756910T>C Locations: - p.Leu174Pro (Ensembl:ENST00000631073) - c.521T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs147846246 | 175 | L>P | ESP ExAC | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.582) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135756913T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135756913T>C Locations: - p.Leu175Pro (Ensembl:ENST00000631073) - c.524T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1341717090 | 176 | I>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135756915A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135756915A>T Locations: - p.Ile176Phe (Ensembl:ENST00000631073) - c.526A>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1341717090 | 176 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.135756915A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135756915A>G Locations: - p.Ile176Val (Ensembl:ENST00000631073) - c.526A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1376281716 | 177 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135756919A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135756919A>G Locations: - p.Tyr177Cys (Ensembl:ENST00000631073) - c.530A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs772807378 | 177 | Y>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135756918T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135756918T>C Locations: - p.Tyr177His (Ensembl:ENST00000631073) - c.529T>C (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV53709143 | 178 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135756921C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135756921C>T Locations: - p.Leu178Phe (cosmic curated:ENST00000631073) - c.532C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001771517 rs2131434975 | 179 | S>G | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135756924A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135756924A>G Locations: - p.Ser179Gly (Ensembl:ENST00000631073) - c.535A>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1229138685 | 179 | S>T | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.292) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135756925G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135756925G>C Locations: - p.Ser179Thr (Ensembl:ENST00000631073) - c.536G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs758191094 | 182 | G>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.232) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135757156G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757156G>T Locations: - p.Gly182Cys (Ensembl:ENST00000631073) - c.544G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53709571 | 183 | N>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135757160A>T Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757160A>T Locations: - p.N183I (NCI-TCGA:ENST00000631073) - p.Asn183Ile (cosmic curated:ENST00000631073) - c.548A>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs777610977 | 184 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.135757162A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757162A>G Locations: - p.Ile184Val (Ensembl:ENST00000631073) - c.550A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV107221930 | 185 | W>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135757166G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135757166G>A Locations: - p.Trp185Ter (cosmic curated:ENST00000631073) - c.554G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV105045318 | 186 | E>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135757169A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135757169A>G Locations: - p.Glu186Gly (cosmic curated:ENST00000631073) - c.557A>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV107221975 | 186 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135757168G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135757168G>A Locations: - p.Glu186Lys (cosmic curated:ENST00000631073) - c.556G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV002037055 rs1192150242 | 187 | Q>* | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135757171C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757171C>T Locations: - p.Gln187Ter (Ensembl:ENST00000631073) - c.559C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV002246920 rs958688368 | 187 | Q>H | Likely benign (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.838) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135757173G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757173G>T Locations: - p.Gln187His (Ensembl:ENST00000631073) - c.561G>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1831551067 | 188 | I>V | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.135757174A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757174A>G Locations: - p.Ile188Val (Ensembl:ENST00000631073) - c.562A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53697213 RCV002067027 RCV002270994 RCV002270995 RCV002314592 RCV002512126 rs568539413 | 190 | R>C | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.334) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.0004 (ClinVar) Accession: NC_000009.12:g.135757180C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757180C>T Locations: - p.Arg190Cys (Ensembl:ENST00000631073) - c.568C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
COSV99705943 RCV000696130 RCV002317922 rs756952430 | 190 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.06) Somatic: Yes Population frequencies: - MAF: 0.00002392 (gnomAD) - MAF: 0.00004 (ClinVar) Accession: NC_000009.12:g.135757181G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757181G>A Locations: - p.R190H (NCI-TCGA:ENST00000631073) - p.Arg190His (Ensembl:ENST00000631073) - c.569G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
rs1831552074 | 191 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135757184T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757184T>C Locations: - p.Val191Ala (Ensembl:ENST00000631073) - c.572T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53703148 rs780676286 | 191 | V>M | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135757183G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757183G>A Locations: - p.Val191Met (Ensembl:ENST00000631073) - c.571G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1588323219 | 194 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135757193T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757193T>C Locations: - p.Val194Ala (Ensembl:ENST00000631073) - c.581T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5326579 RCV000444548 RCV001049872 rs143536408 | 194 | V>I | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Population frequencies: - MAF: 0.00008 (ClinVar) Accession: NC_000009.12:g.135757192G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757192G>A Locations: - p.Val194Ile (Ensembl:ENST00000631073) - c.580G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV107221899 rs1209398053 | 196 | E>K | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135757198G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757198G>A Locations: - p.Glu196Lys (Ensembl:ENST00000631073) - c.586G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs769285406 | 197 | M>I | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135757203G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757203G>A Locations: - p.Met197Ile (Ensembl:ENST00000631073) - c.591G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001983658 rs1217512521 | 198 | I>M | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.094) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135757206C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757206C>G Locations: - p.Ile198Met (Ensembl:ENST00000631073) - c.594C>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1831555572 | 198 | I>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.135) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135757205T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757205T>C Locations: - p.Ile198Thr (Ensembl:ENST00000631073) - c.593T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs774916717 | 198 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000009.12:g.135757204A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757204A>G Locations: - p.Ile198Val (Ensembl:ENST00000631073) - c.592A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1831555885 | 200 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.626) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135757210A>C Codon: ACT/CCT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757210A>C Locations: - p.Thr200Pro (Ensembl:ENST00000631073) - c.598A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs762251339 | 201 | L>V | Likely benign (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000009.12:g.135757213C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757213C>G Locations: - p.Leu201Val (Ensembl:ENST00000631073) - c.601C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53701090 | 202 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135757216C>T Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757216C>T Locations: - p.P202S (NCI-TCGA:ENST00000631073) - p.Pro202Ser (cosmic curated:ENST00000631073) - c.604C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000658265 rs1554770959 | 205 | I>V | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000009.12:g.135757225A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757225A>G Locations: - p.Ile205Val (Ensembl:ENST00000631073) - c.613A>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
RCV000659133 rs1554770961 | 206 | T>A | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135757228A>G Codon: ACG/GCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757228A>G Locations: - p.Thr206Ala (Ensembl:ENST00000631073) - c.616A>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs767824652 | 206 | T>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.778) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135757229C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757229C>T Locations: - p.Thr206Met (Ensembl:ENST00000631073) - c.617C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs755657007 | 208 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.325) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135757301T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757301T>C Locations: - p.Phe208Leu (Ensembl:ENST00000631073) - c.622T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs755657007 | 208 | F>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.223) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135757301T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757301T>G Locations: - p.Phe208Val (Ensembl:ENST00000631073) - c.622T>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs528081292 | 209 | W>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.279) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135757306G>T Codon: TGG/TGT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757306G>T Locations: - p.Trp209Cys (Ensembl:ENST00000631073) - c.627G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV107221968 rs779498481 | 210 | P>L | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.133) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Accession: NC_000009.12:g.135757308C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757308C>T Locations: - p.Pro210Leu (Ensembl:ENST00000631073) - c.629C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1488258845 | 210 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000009.12:g.135757307C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757307C>T Locations: - p.Pro210Ser (Ensembl:ENST00000631073) - c.628C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53696046 rs1831563195 | 213 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated TOPMed | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.59) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135757317G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757317G>A Locations: - p.R213Q (NCI-TCGA:ENST00000631073) - p.Arg213Gln (Ensembl:ENST00000631073) - c.638G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV108014611 rs1468077288 | 213 | R>W | Variant of uncertain significance (Ensembl) | cosmic curated TOPMed | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135757316C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757316C>T Locations: - p.Arg213Trp (Ensembl:ENST00000631073) - c.637C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53700644 | 214 | N>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135757321C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135757321C>A Locations: - p.Asn214Lys (cosmic curated:ENST00000631073) - c.642C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001886657 rs201583448 | 215 | L>Q | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135757323T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757323T>A Locations: - p.Leu215Gln (Ensembl:ENST00000631073) - c.644T>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1369296811 | 217 | I>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135757329T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757329T>A Locations: - p.Ile217Asn (Ensembl:ENST00000631073) - c.650T>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53701306 | 218 | P>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135757331C>G Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757331C>G Locations: - p.P218A (NCI-TCGA:ENST00000631073) - p.Pro218Ala (cosmic curated:ENST00000631073) - c.652C>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99704944 | 218 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135757332C>T Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757332C>T Locations: - p.P218L (NCI-TCGA:ENST00000631073) - p.Pro218Leu (cosmic curated:ENST00000631073) - c.653C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs748541587 | 218 | P>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135757332C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757332C>G Locations: - p.Pro218Arg (Ensembl:ENST00000631073) - c.653C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001958479 rs760870883 | 219 | V>I | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.702) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135757334G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757334G>A Locations: - p.Val219Ile (Ensembl:ENST00000631073) - c.655G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1393815750 | 223 | C>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135757347G>T Codon: TGC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757347G>T Locations: - p.Cys223Phe (Ensembl:ENST00000631073) - c.668G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53704099 rs1311337366 | 224 | W>* | cosmic curated gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135757350G>A, NC_000009.12:g.135757351G>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757350G>A, NC_000009.12:g.135757351G>A Locations: - p.Trp224Ter (cosmic curated:ENST00000631073) - c.671G>A (cosmic curated:ENST00000631073) - p.Trp224Ter (Ensembl:ENST00000631073) - c.672G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1246462476 | 225 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135757353T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757353T>C Locations: - p.Leu225Pro (Ensembl:ENST00000631073) - c.674T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1353434991 | 226 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135757356C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757356C>T Locations: - p.Ala226Val (Ensembl:ENST00000631073) - c.677C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1218041775 | 228 | H>Q | Likely benign (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135757363C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757363C>A Locations: - p.His228Gln (Ensembl:ENST00000631073) - c.684C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs111498528 | 228 | H>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135757362A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757362A>G Locations: - p.His228Arg (Ensembl:ENST00000631073) - c.683A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs764050624 | 229 | A>P | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.932) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135757364G>C Codon: GCG/CCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757364G>C Locations: - p.Ala229Pro (Ensembl:ENST00000631073) - c.685G>C (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs764050624 | 229 | A>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.123) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135757364G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757364G>T Locations: - p.Ala229Ser (Ensembl:ENST00000631073) - c.685G>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs764050624 | 229 | A>T | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.374) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135757364G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757364G>A Locations: - p.Ala229Thr (Ensembl:ENST00000631073) - c.685G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs575954363 | 229 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.099) - SIFT: deleterious - low confidence (0.03) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) - MAF: 0.000196232 (1000Genomes) Accession: NC_000009.12:g.135757365C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757365C>T Locations: - p.A229V (NCI-TCGA:ENST00000631073) - p.Ala229Val (Ensembl:ENST00000631073) - c.686C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53709059 | 231 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135757370G>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757370G>A Locations: - p.E231K (NCI-TCGA:ENST00000631073) - p.Glu231Lys (cosmic curated:ENST00000631073) - c.691G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs750230295 | 231 | E>Q | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.427) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135757370G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757370G>C Locations: - p.Glu231Gln (Ensembl:ENST00000631073) - c.691G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs867047100 | 232 | N>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.511) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135757374A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757374A>T Locations: - p.Asn232Ile (Ensembl:ENST00000631073) - c.695A>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA375497635 RCV000650632 rs755782470 RCV002026216 | 233 | M>L | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135757376A>T, NC_000009.12:g.135757376A>C Codon: ATG/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135757376A>T, NC_000009.12:g.135757376A>C Locations: - p.Met233Leu (Ensembl:ENST00000631073) - c.697A>T (Ensembl:ENST00000631073) - c.697A>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1315519442 | 238 | H>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.099) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135758423C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758423C>A Locations: - p.His238Asn (Ensembl:ENST00000631073) - c.712C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1588327142 | 238 | H>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.914) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135758424A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758424A>C Locations: - p.His238Pro (Ensembl:ENST00000631073) - c.713A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV107221909 rs766205352 | 239 | R>C | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135758426C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758426C>T Locations: - p.Arg239Cys (Ensembl:ENST00000631073) - c.715C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs766205352 | 239 | R>G | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135758426C>G Codon: CGT/GGT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758426C>G Locations: - p.Arg239Gly (Ensembl:ENST00000631073) - c.715C>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV53699969 rs1172086515 | 239 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000003988 (gnomAD) Accession: NC_000009.12:g.135758427G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758427G>A Locations: - p.R239H (NCI-TCGA:ENST00000631073) - p.Arg239His (Ensembl:ENST00000631073) - c.716G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
RCV001071952 rs1831666357 | 240 | A>T | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.22) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135758429G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758429G>A Locations: - p.Ala240Thr (Ensembl:ENST00000631073) - c.718G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
CA5326653 RCV000381563 RCV000546728 RCV002270217 RCV002270218 rs776559951 | 240 | A>V | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.295) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135758430C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758430C>T Locations: - p.Ala240Val (Ensembl:ENST00000631073) - c.719C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001774143 rs1831666807 | 241 | I>M | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.086) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135758434C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758434C>G Locations: - p.Ile241Met (Ensembl:ENST00000631073) - c.723C>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1294418231 | 242 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.146) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000009.12:g.135758436T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758436T>C Locations: - p.Leu242Pro (Ensembl:ENST00000631073) - c.725T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA375498111 CM159165 COSV53706435 RCV000497817 RCV001058624 RCV001526614 RCV002413365 rs1554771469 | 243 | R>Q | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.839) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135758439G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758439G>A Locations: - p.R243Q (NCI-TCGA:ENST00000631073) - p.Arg243Gln (Ensembl:ENST00000631073) - c.728G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study Cross-references: - NCI-TCGA: CM159165 | |||||||
COSV53695489 RCV001767664 RCV001868485 rs375711140 | 243 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Population frequencies: - MAF: 0.00001594 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135758438C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758438C>T Locations: - p.R243W (NCI-TCGA:ENST00000631073) - p.Arg243Trp (Ensembl:ENST00000631073) - c.727C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1408290051 | 244 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135758442C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758442C>T Locations: - p.Thr244Ile (Ensembl:ENST00000631073) - c.731C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1277700294 | 245 | Q>* | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135758444C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758444C>T Locations: - p.Gln245Ter (Ensembl:ENST00000631073) - c.733C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001297848 rs1341175923 | 247 | A>V | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135758451C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758451C>T Locations: - p.Ala247Val (Ensembl:ENST00000631073) - c.740C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV000680018 RCV001266677 RCV002531409 RCV003420198 rs1564354299 | 248 | M>T | KCNT1-related disorder (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.822) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135758454T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758454T>C Locations: - p.Met248Thr (Ensembl:ENST00000631073) - c.743T>C (Ensembl:ENST00000631073) Disease association: - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases - KCNT1-related disorder Source type: large scale study | |||||||
rs1382393432 | 248 | M>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.434) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135758453A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758453A>G Locations: - p.Met248Val (Ensembl:ENST00000631073) - c.742A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA375498221 RCV000514688 rs1554771476 | 251 | Q>E | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.839) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135758462C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758462C>G Locations: - p.Gln251Glu (Ensembl:ENST00000631073) - c.751C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001091222 rs1831669014 | 252 | V>F | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135758465G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758465G>T Locations: - p.Val252Phe (Ensembl:ENST00000631073) - c.754G>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs757884130 | 253 | L>F | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000009.12:g.135758468C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758468C>T Locations: - p.Leu253Phe (Ensembl:ENST00000631073) - c.757C>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
RCV001952356 rs757884130 | 253 | L>I | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000009.12:g.135758468C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758468C>A Locations: - p.Leu253Ile (Ensembl:ENST00000631073) - c.757C>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs757884130 | 253 | L>V | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135758468C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758468C>G Locations: - p.Leu253Val (Ensembl:ENST00000631073) - c.757C>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV53695329 rs1220559272 | 254 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Population frequencies: - MAF: 0.000003981 (gnomAD) Accession: NC_000009.12:g.135758471A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758471A>G Locations: - p.I254V (NCI-TCGA:ENST00000631073) - p.Ile254Val (Ensembl:ENST00000631073) - c.760A>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs2131444644 | 256 | F>Y | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.196) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135758478T>A Codon: TTC/TAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758478T>A Locations: - p.Phe256Tyr (Ensembl:ENST00000631073) - c.767T>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99705544 | 259 | L>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135758486C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135758486C>A Locations: - p.Leu259Met (cosmic curated:ENST00000631073) - c.775C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53696703 | 260 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135758489C>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758489C>A Locations: - p.L260M (NCI-TCGA:ENST00000631073) - p.Leu260Met (cosmic curated:ENST00000631073) - c.778C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1160972448 | 261 | C>F | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135758493G>T Codon: TGC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758493G>T Locations: - p.Cys261Phe (Ensembl:ENST00000631073) - c.782G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001961262 rs1160972448 | 261 | C>Y | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135758493G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758493G>A Locations: - p.Cys261Tyr (Ensembl:ENST00000631073) - c.782G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV002250069 RCV003222404 rs1057522914 | 262 | L>F | Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.881) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135758495C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758495C>T Locations: - p.Leu262Phe (Ensembl:ENST00000631073) - c.784C>T (Ensembl:ENST00000631073) Disease association: - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
CA16605720 RCV000418409 rs1057522914 | 262 | L>I | Pathogenic (Ensembl) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.586) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135758495C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758495C>A Locations: - p.Leu262Ile (Ensembl:ENST00000631073) - c.784C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs749361686 | 263 | V>I | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135758498G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758498G>A Locations: - p.Val263Ile (Ensembl:ENST00000631073) - c.787G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1181887876 | 265 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135758504A>G Codon: ACG/GCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758504A>G Locations: - p.Thr265Ala (Ensembl:ENST00000631073) - c.793A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53694844 | 265 | T>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135758505C>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758505C>A Locations: - p.T265K (NCI-TCGA:ENST00000631073) - p.Thr265Lys (cosmic curated:ENST00000631073) - c.794C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5326667 COSV53696811 RCV000551910 rs376583438 | 265 | T>M | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00006 (ClinVar) Accession: NC_000009.12:g.135758505C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758505C>T Locations: - p.Thr265Met (Ensembl:ENST00000631073) - c.794C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53700058 | 266 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135758508G>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758508G>A Locations: - p.G266E (NCI-TCGA:ENST00000631073) - p.Gly266Glu (cosmic curated:ENST00000631073) - c.797G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV104556846 COSV53704652 | 266 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated NCI-TCGA Cosmic | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135758506-135758507GG>AA, NC_000009.12:g.135758507G>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135758506-135758507GG>AA, NC_000009.12:g.135758507G>A Locations: - p.Gly266Arg (cosmic curated:ENST00000631073) - c.795_796delinsAA (cosmic curated:ENST00000631073) - p.G266R (NCI-TCGA:ENST00000631073) - c.796G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99706815 | 268 | C>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135759685C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135759685C>A Locations: - p.Cys268Ter (cosmic curated:ENST00000631073) - c.804C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CM1310284 COSV99706005 RCV002003533 rs587777264 | 269 | G>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl) | NCI-TCGA NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135759686G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759686G>T Locations: - p.G269C (NCI-TCGA:ENST00000631073) - p.Gly269Cys (Ensembl:ENST00000631073) - c.805G>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: - NCI-TCGA: CM1310284 | |||||||
VAR_078683 CA151134 RCV000114361 RCV000255411 RCV000627792 RCV001265540 rs587777264 | 269 | G>S | DEE14 (UniProt) Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.135759686G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759686G>A Locations: - p.Gly269Ser (UniProt:Q5JUK3) - p.Gly269Ser (Ensembl:ENST00000631073) - c.805G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy 14 (DEE14) - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: mixed | |||||||
rs1831776715 | 274 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.802) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135759702A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759702A>G Locations: - p.Glu274Gly (Ensembl:ENST00000631073) - c.821A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53695435 | 275 | R>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135759705G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135759705G>A Locations: - p.Arg275Gln (cosmic curated:ENST00000631073) - c.824G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99706334 RCV001331153 rs369101729 | 275 | R>W | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000004032 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135759704C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759704C>T Locations: - p.R275W (NCI-TCGA:ENST00000631073) - p.Arg275Trp (Ensembl:ENST00000631073) - c.823C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 Source type: large scale study | |||||||
rs1272987725 | 276 | A>E | Likely pathogenic (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.736) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135759708C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759708C>A Locations: - p.Ala276Glu (Ensembl:ENST00000631073) - c.827C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV002251705 rs1272987725 | 276 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Likely pathogenic (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.852) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000008049 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135759708C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759708C>T Locations: - p.A276V (NCI-TCGA:ENST00000631073) - p.Ala276Val (Ensembl:ENST00000631073) - c.827C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53695730 RCV001347977 rs1831777941 | 277 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135759710G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759710G>A Locations: - p.G277S (NCI-TCGA:ENST00000631073) - p.Gly277Ser (Ensembl:ENST00000631073) - c.829G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs146070496 | 278 | E>* | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135759713G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759713G>T Locations: - p.Glu278Ter (Ensembl:ENST00000631073) - c.832G>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV53698946 | 278 | E>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135759714A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135759714A>G Locations: - p.Glu278Gly (cosmic curated:ENST00000631073) - c.833A>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA239655 RCV000174154 RCV000650653 RCV002372085 rs146070496 | 278 | E>K | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.19) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135759713G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759713G>A Locations: - p.Glu278Lys (Ensembl:ENST00000631073) - c.832G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
rs1315701914 | 279 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.214) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135759716A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759716A>G Locations: - p.Asn279Asp (Ensembl:ENST00000631073) - c.835A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99707004 | 281 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135759723C>T Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759723C>T Locations: - p.S281F (NCI-TCGA:ENST00000631073) - p.Ser281Phe (cosmic curated:ENST00000631073) - c.842C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001323228 RCV002271002 RCV002271003 RCV002317601 rs1564356207 | 281 | S>P | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.124) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135759722T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759722T>C Locations: - p.Ser281Pro (Ensembl:ENST00000631073) - c.841T>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
COSV53701788 | 282 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135759725C>T Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759725C>T Locations: - p.L282F (NCI-TCGA:ENST00000631073) - p.Leu282Phe (cosmic curated:ENST00000631073) - c.844C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99704852 | 282 | L>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135759726T>C Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759726T>C Locations: - p.L282P (NCI-TCGA:ENST00000631073) - p.Leu282Pro (cosmic curated:ENST00000631073) - c.845T>C (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1831779903 | 284 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.191) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135759731A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759731A>G Locations: - p.Thr284Ala (Ensembl:ENST00000631073) - c.850A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1831779903 | 284 | T>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000009.12:g.135759731A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759731A>T Locations: - p.Thr284Ser (Ensembl:ENST00000631073) - c.850A>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA16612548 RCV000459449 rs1060503697 | 285 | S>T | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.135759733_135759734delinsGA Codon: ACCTCC/ACGACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759733_135759734delinsGA Locations: - p.Ser285Thr (Ensembl:ENST00000631073) - c.852_853delinsGA (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV53698185 | 286 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135759739C>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759739C>A Locations: - p.F286L (NCI-TCGA:ENST00000631073) - p.Phe286Leu (cosmic curated:ENST00000631073) - c.858C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1197134262 | 286 | F>S | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.664) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135759738T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759738T>C Locations: - p.Phe286Ser (Ensembl:ENST00000631073) - c.857T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs878855057 | 288 | F>L | Likely benign (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.862) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135759745C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759745C>G Locations: - p.Phe288Leu (Ensembl:ENST00000631073) - c.864C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53694954 rs779964634 | 290 | I>V | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135759749A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759749A>G Locations: - p.Ile290Val (Ensembl:ENST00000631073) - c.868A>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
CA10606221 RCV000405838 RCV000545226 RCV002270213 RCV002270214 rs149436191 | 291 | V>I | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ESP TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135759752G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759752G>A Locations: - p.Val291Ile (Ensembl:ENST00000631073) - c.871G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV104556774 | 294 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135759762C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135759762C>T Locations: - p.Ser294Phe (cosmic curated:ENST00000631073) - c.881C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53706823 rs773941339 | 296 | V>M | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135759767G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759767G>A Locations: - p.Val296Met (Ensembl:ENST00000631073) - c.886G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99706456 | 299 | G>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135759776G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135759776G>T Locations: - p.Gly299Cys (cosmic curated:ENST00000631073) - c.895G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99706456 COSV99706836 RCV001314434 RCV003399091 rs1831783786 | 299 | G>S | KCNT1-related disorder (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135759776G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759776G>A Locations: - p.G299S (NCI-TCGA:ENST00000631073) - p.Gly299Ser (Ensembl:ENST00000631073) - c.895G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - KCNT1-related disorder Source type: large scale study | |||||||
COSV105045380 | 300 | D>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135759781C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135759781C>A Locations: - p.Asp300Glu (cosmic curated:ENST00000631073) - c.900C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53695066 RCV001985014 RCV002473333 rs773718324 | 301 | V>I | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.582) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000009.12:g.135759782G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759782G>A Locations: - p.Val301Ile (Ensembl:ENST00000631073) - c.901G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV106394406 RCV000808323 RCV002381789 TCGA novel rs1588330851 | 302 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar NCI-TCGA TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135759786C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759786C>T Locations: - p.T302M (NCI-TCGA:ENST00000631073) - p.Thr302Met (Ensembl:ENST00000631073) - c.905C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV99706658 | 303 | P>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135759789C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135759789C>T Locations: - p.Pro303Leu (cosmic curated:ENST00000631073) - c.908C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000701691 RCV001766539 RCV002270971 RCV002270972 rs978227077 | 304 | K>R | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: deleterious - low confidence (0.04) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135759792A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759792A>G Locations: - p.Lys304Arg (Ensembl:ENST00000631073) - c.911A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001196425 RCV001226517 RCV002271189 rs1831785244 | 305 | I>M | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135759796C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759796C>G Locations: - p.Ile305Met (Ensembl:ENST00000631073) - c.915C>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV001904102 rs2131451388 | 305 | I>N | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.665) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135759795T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759795T>A Locations: - p.Ile305Asn (Ensembl:ENST00000631073) - c.914T>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs766769184 COSV53704454 | 306 | W>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | ExAC gnomAD NCI-TCGA Cosmic cosmic curated | |||
Consequence: stop gained Somatic: Yes Accession: NC_000009.12:g.135759798G>A, NC_000009.12:g.135759799G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759798G>A, NC_000009.12:g.135759799G>A Locations: - p.Trp306Ter (Ensembl:ENST00000631073) - c.917G>A (Ensembl:ENST00000631073) - p.W306* (NCI-TCGA:ENST00000631073) - p.Trp306Ter (cosmic curated:ENST00000631073) - c.918G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1337774279 | 306 | W>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135759799G>C Codon: TGG/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759799G>C Locations: - p.Trp306Cys (Ensembl:ENST00000631073) - c.918G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001172193 RCV002559650 rs777106178 | 307 | P>L | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.059) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135759801C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759801C>T Locations: - p.Pro307Leu (Ensembl:ENST00000631073) - c.920C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV53706495 RCV001331154 rs1340962392 | 308 | S>L | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.959) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135759804C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759804C>T Locations: - p.Ser308Leu (Ensembl:ENST00000631073) - c.923C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 Source type: large scale study Cross-references: | |||||||
COSV53695704 | 309 | Q>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135759806C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135759806C>T Locations: - p.Gln309Ter (cosmic curated:ENST00000631073) - c.925C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001937319 rs1289554527 | 309 | Q>H | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135759808G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759808G>C Locations: - p.Gln309His (Ensembl:ENST00000631073) - c.927G>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV53701073 | 313 | V>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135759819T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135759819T>G Locations: - p.Val313Gly (cosmic curated:ENST00000631073) - c.938T>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001065457 rs764327750 | 314 | I>M | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.888) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135759823C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759823C>G Locations: - p.Ile314Met (Ensembl:ENST00000631073) - c.942C>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1831787938 | 314 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000009.12:g.135759821A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759821A>G Locations: - p.Ile314Val (Ensembl:ENST00000631073) - c.940A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53700077 | 315 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135759826G>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759826G>A Locations: - p.M315I (NCI-TCGA:ENST00000631073) - p.Met315Ile (cosmic curated:ENST00000631073) - c.945G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1440911694 | 315 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.243) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135759824A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759824A>G Locations: - p.Met315Val (Ensembl:ENST00000631073) - c.943A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1477529193 | 316 | I>F | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135759827A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759827A>T Locations: - p.Ile316Phe (Ensembl:ENST00000631073) - c.946A>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1243067841 | 317 | C>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.779) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135759831G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759831G>A Locations: - p.Cys317Tyr (Ensembl:ENST00000631073) - c.950G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs750233863 | 318 | V>M | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135759833G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759833G>A Locations: - p.Val318Met (Ensembl:ENST00000631073) - c.952G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs756116060 | 319 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.421) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135759837C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759837C>T Locations: - p.Ala319Val (Ensembl:ENST00000631073) - c.956C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001194603 rs1831789627 | 320 | L>R | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135759840T>G Codon: CTC/CGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759840T>G Locations: - p.Leu320Arg (Ensembl:ENST00000631073) - c.959T>G (Ensembl:ENST00000631073) Disease association: - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs558837964 | 321 | V>L | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.253) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135759842G>T, NC_000009.12:g.135759842G>C Codon: GTG/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759842G>T, NC_000009.12:g.135759842G>C Locations: - p.Val321Leu (Ensembl:ENST00000631073) - c.961G>T (Ensembl:ENST00000631073) - c.961G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001340114 rs558837964 | 321 | V>M | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.584) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000009.12:g.135759842G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759842G>A Locations: - p.Val321Met (Ensembl:ENST00000631073) - c.961G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
CA375498728 RCV000493856 rs1131691442 | 326 | Q>K | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.844) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135759857C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135759857C>A Locations: - p.Gln326Lys (Ensembl:ENST00000631073) - c.976C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001219954 rs767434859 RCV001058382 | 327 | F>L | Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.163) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765033C>A, NC_000009.12:g.135765033C>G Codon: TTC/TTA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765033C>A, NC_000009.12:g.135765033C>G Locations: - p.Phe327Leu (Ensembl:ENST00000631073) - c.981C>A (Ensembl:ENST00000631073) - c.981C>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV99706509 rs913411736 | 328 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000004017 (gnomAD) Accession: NC_000009.12:g.135765034G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765034G>A Locations: - p.E328K (NCI-TCGA:ENST00000631073) - p.Glu328Lys (Ensembl:ENST00000631073) - c.982G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV106394610 | 329 | E>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135765037G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135765037G>C Locations: - p.Glu329Gln (cosmic curated:ENST00000631073) - c.985G>C (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001795622 rs1329791962 | 331 | V>A | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000009.12:g.135765044T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765044T>C Locations: - p.Val331Ala (Ensembl:ENST00000631073) - c.992T>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 Source type: large scale study | |||||||
rs1329791962 | 331 | V>D | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.766) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765044T>A Codon: GTC/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765044T>A Locations: - p.Val331Asp (Ensembl:ENST00000631073) - c.992T>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs759531782 | 331 | V>I | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135765043G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765043G>A Locations: - p.Val331Ile (Ensembl:ENST00000631073) - c.991G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1832161668 | 333 | L>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.881) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765049C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765049C>A Locations: - p.Leu333Ile (Ensembl:ENST00000631073) - c.997C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53707757 | 333 | L>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135765049C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135765049C>G Locations: - p.Leu333Val (cosmic curated:ENST00000631073) - c.997C>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1325985301 | 334 | W>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135765053G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765053G>A Locations: - p.Trp334Ter (Ensembl:ENST00000631073) - c.1001G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1196953770 | 334 | W>C | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765054G>C Codon: TGG/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765054G>C Locations: - p.Trp334Cys (Ensembl:ENST00000631073) - c.1002G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs928908248 | 334 | W>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765052T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765052T>C Locations: - p.Trp334Arg (Ensembl:ENST00000631073) - c.1000T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53703209 | 335 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135765057G>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765057G>A Locations: - p.M335I (NCI-TCGA:ENST00000631073) - p.Met335Ile (cosmic curated:ENST00000631073) - c.1005G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA16606388 RCV000438493 rs1057522923 | 335 | M>R | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.919) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765056T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765056T>G Locations: - p.Met335Arg (Ensembl:ENST00000631073) - c.1004T>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV002028669 rs2131473380 | 335 | M>V | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.434) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135765055A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765055A>G Locations: - p.Met335Val (Ensembl:ENST00000631073) - c.1003A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1832162607 | 336 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.821) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765059A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765059A>G Locations: - p.Glu336Gly (Ensembl:ENST00000631073) - c.1007A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs752514808 | 337 | R>G | Pathogenic (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.248) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765061C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765061C>G Locations: - p.Arg337Gly (Ensembl:ENST00000631073) - c.1009C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5326764 COSV53700894 RCV000413789 RCV000554518 RCV002270240 RCV002270241 rs758152252 | 337 | R>Q | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.451) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135765062G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765062G>A Locations: - p.Arg337Gln (Ensembl:ENST00000631073) - c.1010G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
CA16605732 RCV000420451 RCV000795380 RCV002252125 rs752514808 | 337 | R>W | Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765061C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765061C>T Locations: - p.Arg337Trp (Ensembl:ENST00000631073) - c.1009C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1177510700 | 338 | Q>E | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.773) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765064C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765064C>G Locations: - p.Gln338Glu (Ensembl:ENST00000631073) - c.1012C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1588342781 | 340 | S>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135765070T>G Codon: TCA/GCA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765070T>G Locations: - p.Ser340Ala (Ensembl:ENST00000631073) - c.1018T>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99706511 rs1832163598 | 340 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.11) Somatic: Yes Accession: NC_000009.12:g.135765071C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765071C>T Locations: - p.S340L (NCI-TCGA:ENST00000631073) - p.Ser340Leu (Ensembl:ENST00000631073) - c.1019C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53701115 | 342 | G>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135765076G>T Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765076G>T Locations: - p.G342C (NCI-TCGA:ENST00000631073) - p.Gly342Cys (cosmic curated:ENST00000631073) - c.1024G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99706726 | 342 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135765077G>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765077G>A Locations: - p.G342D (NCI-TCGA:ENST00000631073) - p.Gly342Asp (cosmic curated:ENST00000631073) - c.1025G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1832164920 | 345 | S>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.323) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765086G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765086G>C Locations: - p.Ser345Thr (Ensembl:ENST00000631073) - c.1034G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53708577 RCV001961464 rs751116785 | 346 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000007981 (gnomAD) - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135765088C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765088C>T Locations: - p.R346C (NCI-TCGA:ENST00000631073) - p.Arg346Cys (Ensembl:ENST00000631073) - c.1036C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53696606 rs1044487630 | 346 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.344) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00000399 (gnomAD) Accession: NC_000009.12:g.135765089G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765089G>A Locations: - p.R346H (NCI-TCGA:ENST00000631073) - p.Arg346His (Ensembl:ENST00000631073) - c.1037G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV53710321 COSV99706121 rs780633460 | 348 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000003989 (gnomAD) Accession: NC_000009.12:g.135765094C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765094C>T Locations: - p.R348C (NCI-TCGA:ENST00000631073) - p.Arg348Cys (Ensembl:ENST00000631073) - c.1042C>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV53711523 rs1400096269 | 348 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000003989 (gnomAD) Accession: NC_000009.12:g.135765095G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765095G>A Locations: - p.R348H (NCI-TCGA:ENST00000631073) - p.Arg348His (Ensembl:ENST00000631073) - c.1043G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV99706121 | 348 | R>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135765094C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135765094C>A Locations: - p.Arg348Ser (cosmic curated:ENST00000631073) - c.1042C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs565492968 | 349 | A>S | Variant of uncertain significance (Ensembl) | 1000Genomes | |||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000009.12:g.135765097G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765097G>T Locations: - p.Ala349Ser (Ensembl:ENST00000631073) - c.1045G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53709937 RCV001035611 RCV002552455 rs928555901 | 349 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.122) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001196 (gnomAD) - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135765098C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765098C>T Locations: - p.A349V (NCI-TCGA:ENST00000631073) - p.Ala349Val (Ensembl:ENST00000631073) - c.1046C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
COSV53701189 RCV001877917 rs1284049151 | 351 | T>M | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.817) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135765104C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765104C>T Locations: - p.Thr351Met (Ensembl:ENST00000631073) - c.1052C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1269887483 | 351 | T>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765103A>T Codon: ACG/TCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765103A>T Locations: - p.Thr351Ser (Ensembl:ENST00000631073) - c.1051A>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1217096141 | 352 | E>D | Likely benign (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.406) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765108G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765108G>C Locations: - p.Glu352Asp (Ensembl:ENST00000631073) - c.1056G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV108014404 | 352 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135765106G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135765106G>A Locations: - p.Glu352Lys (cosmic curated:ENST00000631073) - c.1054G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV002039594 rs2131473824 | 353 | K>R | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135765110A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765110A>G Locations: - p.Lys353Arg (Ensembl:ENST00000631073) - c.1058A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53712177 | 354 | H>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135765112C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135765112C>A Locations: - p.His354Asn (cosmic curated:ENST00000631073) - c.1060C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1308230788 | 354 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765113A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765113A>G Locations: - p.His354Arg (Ensembl:ENST00000631073) - c.1061A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs908848836 | 354 | H>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765112C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765112C>T Locations: - p.His354Tyr (Ensembl:ENST00000631073) - c.1060C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53703764 rs1274830087 | 355 | V>M | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135765115G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765115G>A Locations: - p.Val355Met (Ensembl:ENST00000631073) - c.1063G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1564362315 | 357 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.884) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765122T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765122T>C Locations: - p.Leu357Pro (Ensembl:ENST00000631073) - c.1070T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53710868 | 357 | L>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135765122T>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765122T>A Locations: - p.L357Q (NCI-TCGA:ENST00000631073) - p.Leu357Gln (cosmic curated:ENST00000631073) - c.1070T>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001296041 rs1481122214 | 360 | S>N | Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.647) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765131G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765131G>A Locations: - p.Ser360Asn (Ensembl:ENST00000631073) - c.1079G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs765193021 | 361 | S>C | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765134C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765134C>G Locations: - p.Ser361Cys (Ensembl:ENST00000631073) - c.1082C>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
CA5326780 COSV105822108 RCV000532844 rs765193021 | 361 | S>F | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.577) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135765134C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765134C>T Locations: - p.Ser361Phe (Ensembl:ENST00000631073) - c.1082C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53698927 | 363 | K>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135765139A>T Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765139A>T Locations: - p.K363* (NCI-TCGA:ENST00000631073) - p.Lys363Ter (cosmic curated:ENST00000631073) - c.1087A>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1270731587 | 364 | I>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.162) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765143T>G Codon: ATC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765143T>G Locations: - p.Ile364Ser (Ensembl:ENST00000631073) - c.1091T>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53710369 | 364 | I>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135765143T>C Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765143T>C Locations: - p.I364T (NCI-TCGA:ENST00000631073) - p.Ile364Thr (cosmic curated:ENST00000631073) - c.1091T>C (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs897661213 | 364 | I>V | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135765142A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765142A>G Locations: - p.Ile364Val (Ensembl:ENST00000631073) - c.1090A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53702560 RCV000992237 RCV001051512 RCV002271147 RCV002271148 rs762752381 | 365 | D>N | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.773) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135765145G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765145G>A Locations: - p.Asp365Asn (Ensembl:ENST00000631073) - c.1093G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs751365926 | 366 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.156) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765148C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765148C>T Locations: - p.Leu366Phe (Ensembl:ENST00000631073) - c.1096C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1421075885 | 366 | L>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765149T>A Codon: CTT/CAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765149T>A Locations: - p.Leu366His (Ensembl:ENST00000631073) - c.1097T>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5326786 RCV000416014 RCV001203573 RCV001782897 rs780875110 | 367 | L>F | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.756) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000009.12:g.135765151C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765151C>T Locations: - p.Leu367Phe (Ensembl:ENST00000631073) - c.1099C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53699827 RCV001325102 rs1832172453 | 368 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135765156G>T, NC_000009.12:g.135765156G>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765156G>T, NC_000009.12:g.135765156G>A Locations: - p.M368I (NCI-TCGA:ENST00000631073) - p.Met368Ile (cosmic curated:ENST00000631073) - c.1104G>T (cosmic curated:ENST00000631073) - p.Met368Ile (Ensembl:ENST00000631073) - c.1104G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53698065 rs1832172595 | 369 | D>N | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.811) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135765157G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765157G>A Locations: - p.Asp369Asn (Ensembl:ENST00000631073) - c.1105G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1362947276 | 372 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.322) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765166A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765166A>G Locations: - p.Asn372Asp (Ensembl:ENST00000631073) - c.1114A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99705177 | 372 | N>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135765168C>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765168C>A Locations: - p.N372K (NCI-TCGA:ENST00000631073) - p.Asn372Lys (cosmic curated:ENST00000631073) - c.1116C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5326789 COSV53698685 RCV000543325 rs780708628 | 373 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000003984 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135765169G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765169G>A Locations: - p.E373K (NCI-TCGA:ENST00000631073) - p.Glu373Lys (Ensembl:ENST00000631073) - c.1117G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1832173888 | 374 | F>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765172T>A Codon: TTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765172T>A Locations: - p.Phe374Ile (Ensembl:ENST00000631073) - c.1120T>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53699031 RCV002274553 RCV003774875 rs1832174053 | 374 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135765174C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765174C>A Locations: - p.F374L (NCI-TCGA:ENST00000631073) - p.Phe374Leu (Ensembl:ENST00000631073) - c.1122C>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1588343176 | 375 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765176A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765176A>G Locations: - p.Tyr375Cys (Ensembl:ENST00000631073) - c.1124A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1588343176 | 375 | Y>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765176A>T Codon: TAC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765176A>T Locations: - p.Tyr375Phe (Ensembl:ENST00000631073) - c.1124A>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53695209 RCV001754295 rs1832174592 | 376 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135765178G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765178G>A Locations: - p.A376T (NCI-TCGA:ENST00000631073) - p.Ala376Thr (Ensembl:ENST00000631073) - c.1126G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV99706566 | 376 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135765179C>T Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765179C>T Locations: - p.A376V (NCI-TCGA:ENST00000631073) - p.Ala376Val (cosmic curated:ENST00000631073) - c.1127C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1588343200 | 377 | H>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765182A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765182A>C Locations: - p.His377Pro (Ensembl:ENST00000631073) - c.1130A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53710576 RCV000817191 RCV001766723 RCV002271048 RCV002271049 rs1588343193 | 377 | H>Y | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.47) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135765181C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765181C>T Locations: - p.His377Tyr (Ensembl:ENST00000631073) - c.1129C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV105045169 rs1832175260 | 378 | P>L | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.767) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135765185C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765185C>T Locations: - p.Pro378Leu (Ensembl:ENST00000631073) - c.1133C>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
RCV001920877 rs2131474528 | 378 | P>S | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.335) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765184C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765184C>T Locations: - p.Pro378Ser (Ensembl:ENST00000631073) - c.1132C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
VAR_069311 CA343804 CM129819 COSV53704786 RCV000032799 RCV000412976 RCV000553512 RCV000787272 RCV001375627 RCV003398586 RCV004576914 rs397515407 | 379 | R>Q | ENFL5 (UniProt) Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) KCNT1-related disorder (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Epilepsy syndrome (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt, NCI-TCGA) | UniProt ClinGen NCI-TCGA NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135765188G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765188G>A Locations: - p.R379Q (NCI-TCGA:ENST00000631073) - p.Arg379Gln (UniProt:Q5JUK3) - p.Arg379Gln (Ensembl:ENST00000631073) - c.1136G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Epilepsy syndrome - Epilepsy, nocturnal frontal lobe, 5 (ENFL5) - KCNT1-related disorder Source type: mixed Cross-references: - NCI-TCGA: CM129819 | |||||||
COSV53698283 RCV001036680 RCV004030997 rs779209462 | 379 | R>W | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.17) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135765187C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765187C>T Locations: - p.Arg379Trp (Ensembl:ENST00000631073) - c.1135C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
rs753444830 | 383 | Y>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765627T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765627T>C Locations: - p.Tyr383His (Ensembl:ENST00000631073) - c.1147T>C (Ensembl:ENST00000631073) Source type: large scale study | |||||||
RCV001907722 rs2131477259 | 384 | Y>C | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765631A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765631A>G Locations: - p.Tyr384Cys (Ensembl:ENST00000631073) - c.1151A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
CA5326828 COSV53698825 RCV000498868 RCV002524097 rs368174673 | 385 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen cosmic curated ClinVar ESP ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.681) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001218 (gnomAD) - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135765633G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765633G>A Locations: - p.V385M (NCI-TCGA:ENST00000631073) - p.Val385Met (Ensembl:ENST00000631073) - c.1153G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1398306778 | 386 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.45) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135765636G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765636G>A Locations: - p.Val386Ile (Ensembl:ENST00000631073) - c.1156G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1327895631 | 387 | I>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765639A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765639A>C Locations: - p.Ile387Leu (Ensembl:ENST00000631073) - c.1159A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99705468 COSV99707060 | 388 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135765642C>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765642C>A Locations: - p.L388M (NCI-TCGA:ENST00000631073) - p.Leu388Met (cosmic curated:ENST00000631073) - c.1162C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53711598 rs1280857652 | 389 | C>* | Variant of uncertain significance (Ensembl) | cosmic curated gnomAD | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135765647C>A Codon: TGC/TGA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765647C>A Locations: - p.Cys389Ter (Ensembl:ENST00000631073) - c.1167C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99704659 | 390 | P>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135765649C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135765649C>A Locations: - p.Pro390His (cosmic curated:ENST00000631073) - c.1169C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA16618794 RCV000484142 RCV003766684 rs1064794752 | 390 | P>L | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765649C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765649C>T Locations: - p.Pro390Leu (Ensembl:ENST00000631073) - c.1169C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV000820357 RCV000988290 rs1588344733 | 390 | P>S | Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.577) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765648C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765648C>T Locations: - p.Pro390Ser (Ensembl:ENST00000631073) - c.1168C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV53708640 RCV002020428 rs954342612 | 391 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001219 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135765652C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765652C>T Locations: - p.T391M (NCI-TCGA:ENST00000631073) - p.Thr391Met (Ensembl:ENST00000631073) - c.1172C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs954342612 | 391 | T>R | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765652C>G Codon: ACG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765652C>G Locations: - p.Thr391Arg (Ensembl:ENST00000631073) - c.1172C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53710383 rs751890981 | 392 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.389) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000009.12:g.135765656G>T, NC_000009.12:g.135765656G>C Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765656G>T, NC_000009.12:g.135765656G>C Locations: - p.E392D (NCI-TCGA:ENST00000631073) - p.Glu392Asp (cosmic curated:ENST00000631073) - c.1176G>T (cosmic curated:ENST00000631073) - p.Glu392Asp (Ensembl:ENST00000631073) - c.1176G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53707355 | 392 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135765654G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135765654G>A Locations: - p.Glu392Lys (cosmic curated:ENST00000631073) - c.1174G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001882104 rs2131477505 | 393 | M>I | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000009.12:g.135765659G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765659G>A Locations: - p.Met393Ile (Ensembl:ENST00000631073) - c.1179G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001065852 RCV002267072 RCV002271179 RCV002271180 rs988871689 | 393 | M>V | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135765657A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765657A>G Locations: - p.Met393Val (Ensembl:ENST00000631073) - c.1177A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001933271 rs2131477515 | 394 | D>N | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.95) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765660G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765660G>A Locations: - p.Asp394Asn (Ensembl:ENST00000631073) - c.1180G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53697671 | 396 | Q>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135765667A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135765667A>T Locations: - p.Gln396Leu (cosmic curated:ENST00000631073) - c.1187A>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53705072 | 397 | V>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135765669G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135765669G>A Locations: - p.Val397Met (cosmic curated:ENST00000631073) - c.1189G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5326834 COSV53696772 RCV000531501 RCV003441937 rs781342838 | 398 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00000815 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135765672C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765672C>T Locations: - p.R398C (NCI-TCGA:ENST00000631073) - p.Arg398Cys (Ensembl:ENST00000631073) - c.1192C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs781342838 | 398 | R>G | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.868) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765672C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765672C>G Locations: - p.Arg398Gly (Ensembl:ENST00000631073) - c.1192C>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
CA5326835 COSV53709537 RCV000462226 RCV001280778 RCV002270512 RCV002270513 rs745965148 | 398 | R>H | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.621) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000008182 (gnomAD) Accession: NC_000009.12:g.135765673G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765673G>A Locations: - p.R398H (NCI-TCGA:ENST00000631073) - p.Arg398His (Ensembl:ENST00000631073) - c.1193G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs745965148 | 398 | R>L | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.536) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765673G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765673G>T Locations: - p.Arg398Leu (Ensembl:ENST00000631073) - c.1193G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA10605353 RCV000323077 rs886043301 | 399 | R>K | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765676G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765676G>A Locations: - p.Arg399Lys (Ensembl:ENST00000631073) - c.1196G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001587113 RCV002579463 rs1440098446 | 399 | R>S | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135765677A>C Codon: AGA/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765677A>C Locations: - p.Arg399Ser (Ensembl:ENST00000631073) - c.1197A>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV53700551 | 399 | R>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135765676G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135765676G>C Locations: - p.Arg399Thr (cosmic curated:ENST00000631073) - c.1196G>C (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53711957 | 404 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135765690C>T Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765690C>T Locations: - p.P404S (NCI-TCGA:ENST00000631073) - p.Pro404Ser (cosmic curated:ENST00000631073) - c.1210C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1832217800 | 407 | S>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.868) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765700C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765700C>G Locations: - p.Ser407Cys (Ensembl:ENST00000631073) - c.1220C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53705673 | 408 | Q>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135765703A>G Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765703A>G Locations: - p.Q408R (NCI-TCGA:ENST00000631073) - p.Gln408Arg (cosmic curated:ENST00000631073) - c.1223A>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV108014421 | 409 | R>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135765705C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135765705C>G Locations: - p.Arg409Gly (cosmic curated:ENST00000631073) - c.1225C>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
VAR_069312 rs397515402 | 409 | R>Q | DEE14; gain-of-function mutation (UniProt) | Pathogenic (Ensembl, UniProt) | UniProt Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.135765706G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765706G>A Locations: - p.Arg409Gln (UniProt:Q5JUK3) - p.Arg409Gln (Ensembl:ENST00000631073) - c.1226G>A (Ensembl:ENST00000631073) Disease association: - Developmental and epileptic encephalopathy 14 (DEE14) Source type: mixed | |||||||
COSV53697252 RCV001988131 RCV003134290 rs373755663 | 409 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl) | cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.838) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001222 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135765705C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765705C>T Locations: - p.R409W (NCI-TCGA:ENST00000631073) - p.Arg409Trp (Ensembl:ENST00000631073) - c.1225C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1475180895 | 411 | I>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.437) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765712T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765712T>A Locations: - p.Ile411Asn (Ensembl:ENST00000631073) - c.1232T>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99705491 | 413 | L>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135765717C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135765717C>A Locations: - p.Leu413Ile (cosmic curated:ENST00000631073) - c.1237C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1564363269 | 414 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135765720C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765720C>T Locations: - p.Gln414Ter (Ensembl:ENST00000631073) - c.1240C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001764803 rs1832220041 | 417 | A>P | Likely benign (Ensembl) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.303) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765729G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765729G>C Locations: - p.Ala417Pro (Ensembl:ENST00000631073) - c.1249G>C (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV105045356 | 417 | A>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135765729G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135765729G>T Locations: - p.Ala417Ser (cosmic curated:ENST00000631073) - c.1249G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001034312 rs1832220041 | 417 | A>T | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.428) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765729G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765729G>A Locations: - p.Ala417Thr (Ensembl:ENST00000631073) - c.1249G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
CA16042762 RCV000413029 RCV001865289 rs1057518066 | 418 | L>F | Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.94) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765732C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765732C>T Locations: - p.Leu418Phe (Ensembl:ENST00000631073) - c.1252C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV002022823 rs1057518066 | 418 | L>I | Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135765732C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765732C>A Locations: - p.Leu418Ile (Ensembl:ENST00000631073) - c.1252C>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs989745334 | 418 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765733T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765733T>C Locations: - p.Leu418Pro (Ensembl:ENST00000631073) - c.1253T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs968600438 | 419 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.295) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765736A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765736A>G Locations: - p.Lys419Arg (Ensembl:ENST00000631073) - c.1256A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs368477306 | 422 | D>E | Likely benign (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765746C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765746C>A Locations: - p.Asp422Glu (Ensembl:ENST00000631073) - c.1266C>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
CA658797372 RCV000650665 RCV001551495 RCV002270930 RCV002270931 rs1554773537 | 424 | M>L | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.135765749_135765750delinsAT Codon: CTCATG/CTATTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765749_135765750delinsAT Locations: - p.Met424Leu (Ensembl:ENST00000631073) - c.1269_1270delinsAT (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53701637 RCV000981675 RCV002549569 RCV002550565 RCV003962950 rs201908490 | 424 | M>L | KCNT1-related disorder (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.03) Somatic: Yes Population frequencies: - MAF: 0.0001 (ClinVar) Accession: NC_000009.12:g.135765750A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765750A>T Locations: - p.Met424Leu (Ensembl:ENST00000631073) - c.1270A>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases - KCNT1-related disorder Source type: large scale study | |||||||
RCV001954907 rs763557773 | 424 | M>T | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000009.12:g.135765751T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765751T>C Locations: - p.Met424Thr (Ensembl:ENST00000631073) - c.1271T>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV53694931 rs764562570 | 425 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00001648 (gnomAD) Accession: NC_000009.12:g.135765753C>T Codon: CGA/TGA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765753C>T Locations: - p.R425* (NCI-TCGA:ENST00000631073) - p.Arg425Ter (Ensembl:ENST00000631073) - c.1273C>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs764562570 | 425 | R>G | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765753C>G Codon: CGA/GGA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765753C>G Locations: - p.Arg425Gly (Ensembl:ENST00000631073) - c.1273C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
TCGA novel rs1832222641 | 425 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765754G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765754G>A Locations: - p.R425Q (NCI-TCGA:ENST00000631073) - p.Arg425Gln (Ensembl:ENST00000631073) - c.1274G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2131478100 | 427 | K>M | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.964) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135765760A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765760A>T Locations: - p.Lys427Met (Ensembl:ENST00000631073) - c.1280A>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV002004019 RCV002386892 rs144824627 | 427 | K>Q | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.717) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135765759A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135765759A>C Locations: - p.Lys427Gln (Ensembl:ENST00000631073) - c.1279A>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
COSV53708773 | 428 | M>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135768613G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135768613G>T Locations: - p.Met428Ile (cosmic curated:ENST00000631073) - c.1284G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1383981222 | 430 | N>K | Likely benign (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135768619T>A Codon: AAT/AAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768619T>A Locations: - p.Asn430Lys (Ensembl:ENST00000631073) - c.1290T>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001221069 RCV002275313 rs1336529060 | 430 | N>S | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135768618A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768618A>G Locations: - p.Asn430Ser (Ensembl:ENST00000631073) - c.1289A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV53705285 | 432 | E>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135768625G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135768625G>T Locations: - p.Glu432Asp (cosmic curated:ENST00000631073) - c.1296G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99705181 | 432 | E>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135768624A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135768624A>G Locations: - p.Glu432Gly (cosmic curated:ENST00000631073) - c.1295A>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53706939 | 433 | A>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135768627C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135768627C>A Locations: - p.Ala433Asp (cosmic curated:ENST00000631073) - c.1298C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs566700584 | 441 | N>K | Likely benign (Ensembl) | 1000Genomes TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.238) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000009.12:g.135768652C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768652C>A Locations: - p.Asn441Lys (Ensembl:ENST00000631073) - c.1323C>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1203269440 | 442 | E>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135768654A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768654A>C Locations: - p.Glu442Ala (Ensembl:ENST00000631073) - c.1325A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV106394382 rs141311481 | 442 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | cosmic curated ESP TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.47) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001283 (gnomAD) Accession: NC_000009.12:g.135768653G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768653G>A Locations: - p.E442K (NCI-TCGA:ENST00000631073) - p.Glu442Lys (Ensembl:ENST00000631073) - c.1324G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001901466 RCV002555350 rs141311481 | 442 | E>Q | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.851) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135768653G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768653G>C Locations: - p.Glu442Gln (Ensembl:ENST00000631073) - c.1324G>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study Cross-references: | |||||||
COSV53698583 COSV53701081 RCV000705702 RCV002245614 RCV002270981 RCV002270982 rs1564367281 | 445 | R>C | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135768662C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768662C>T Locations: - p.R445C (NCI-TCGA:ENST00000631073) - p.Arg445Cys (Ensembl:ENST00000631073) - c.1333C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53701081 | 445 | R>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135768662C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135768662C>A Locations: - p.Arg445Ser (cosmic curated:ENST00000631073) - c.1333C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001893514 rs539139475 | 446 | T>K | Developmental and epileptic encephalopathy, 14 (ClinVar) | Benign (Ensembl) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135768666C>A Codon: ACG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768666C>A Locations: - p.Thr446Lys (Ensembl:ENST00000631073) - c.1337C>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
CA240369 RCV000174790 RCV000724047 RCV000804237 RCV002317006 RCV003927600 rs539139475 | 446 | T>M | KCNT1-related disorder (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00015 (ClinVar) Accession: NC_000009.12:g.135768666C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768666C>T Locations: - p.Thr446Met (Ensembl:ENST00000631073) - c.1337C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases - KCNT1-related disorder Source type: large scale study | |||||||
rs539139475 | 446 | T>R | Benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135768666C>G Codon: ACG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768666C>G Locations: - p.Thr446Arg (Ensembl:ENST00000631073) - c.1337C>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
RCV001233920 rs1832501333 | 447 | A>T | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.428) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135768668G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768668G>A Locations: - p.Ala447Thr (Ensembl:ENST00000631073) - c.1339G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV105045320 | 448 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135768671G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135768671G>A Locations: - p.Ala448Thr (cosmic curated:ENST00000631073) - c.1342G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA375505081 RCV000590903 rs1554774322 | 450 | H>L | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.14) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135768833A>T Codon: CAC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768833A>T Locations: - p.His450Leu (Ensembl:ENST00000631073) - c.1349A>T (Ensembl:ENST00000631073) Disease association: - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1306690035 | 450 | H>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.236) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135768832C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768832C>A Locations: - p.His450Asn (Ensembl:ENST00000631073) - c.1348C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001775325 rs1554774322 | 450 | H>P | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.741) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135768833A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768833A>C Locations: - p.His450Pro (Ensembl:ENST00000631073) - c.1349A>C (Ensembl:ENST00000631073) Disease association: - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
CA5326900 RCV000520430 RCV000678817 RCV000707152 RCV002528245 rs537722828 | 450 | H>Q | Hydrocephalus (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.162) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135768834C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768834C>G Locations: - p.His450Gln (Ensembl:ENST00000631073) - c.1350C>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Hydrocephalus (HYC) - Inborn genetic diseases Source type: large scale study | |||||||
RCV002539390 rs773888049 | 451 | Q>R | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.157) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135768836A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768836A>G Locations: - p.Gln451Arg (Ensembl:ENST00000631073) - c.1352A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs747630922 | 452 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.872) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135768838A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768838A>G Locations: - p.Thr452Ala (Ensembl:ENST00000631073) - c.1354A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53708230 | 452 | T>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135768839C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135768839C>T Locations: - p.Thr452Ile (cosmic curated:ENST00000631073) - c.1355C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV104556845 | 453 | I>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135768842T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135768842T>A Locations: - p.Ile453Asn (cosmic curated:ENST00000631073) - c.1358T>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99705536 | 454 | L>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135768845T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135768845T>A Locations: - p.Leu454Gln (cosmic curated:ENST00000631073) - c.1361T>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA10588471 COSV105045141 RCV000255800 RCV000805872 RCV001808720 rs866242631 | 455 | R>C | Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135768847C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768847C>T Locations: - p.Arg455Cys (Ensembl:ENST00000631073) - c.1363C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
VAR_069313 rs397515404 | 455 | R>H | DEE14 (UniProt) | Pathogenic (Ensembl, UniProt) | UniProt Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.135768848G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768848G>A Locations: - p.Arg455His (UniProt:Q5JUK3) - p.Arg455His (Ensembl:ENST00000631073) - c.1364G>A (Ensembl:ENST00000631073) Disease association: - Developmental and epileptic encephalopathy 14 (DEE14) Source type: mixed | |||||||
CA10603169 RCV000371693 RCV003137877 rs866242631 | 455 | R>S | Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135768847C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768847C>A Locations: - p.Arg455Ser (Ensembl:ENST00000631073) - c.1363C>A (Ensembl:ENST00000631073) Disease association: - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs144956052 | 456 | A>S | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.202) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135768850G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768850G>T Locations: - p.Ala456Ser (Ensembl:ENST00000631073) - c.1366G>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV53711017 RCV001050226 rs144956052 | 456 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.519) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000008022 (gnomAD) - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135768850G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768850G>A Locations: - p.A456T (NCI-TCGA:ENST00000631073) - p.Ala456Thr (Ensembl:ENST00000631073) - c.1366G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
CA10588472 RCV000254881 rs886039397 | 457 | W>R | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.825) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135768853T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768853T>C Locations: - p.Trp457Arg (Ensembl:ENST00000631073) - c.1369T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001868375 RCV002318296 rs1564367605 | 458 | A>T | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135768856G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768856G>A Locations: - p.Ala458Thr (Ensembl:ENST00000631073) - c.1372G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study Cross-references: | |||||||
COSV53695874 rs766714200 | 459 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000008011 (gnomAD) Accession: NC_000009.12:g.135768859G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768859G>A Locations: - p.V459M (NCI-TCGA:ENST00000631073) - p.Val459Met (Ensembl:ENST00000631073) - c.1375G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1260538922 | 462 | F>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.867) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135768868T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768868T>G Locations: - p.Phe462Val (Ensembl:ENST00000631073) - c.1384T>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5326908 RCV000534699 rs577633745 | 463 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen ClinVar 1000Genomes dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.954) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) - MAF: 0.000196232 (1000Genomes) Accession: NC_000009.12:g.135768871G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768871G>A Locations: - p.A463T (NCI-TCGA:ENST00000631073) - p.Ala463Thr (Ensembl:ENST00000631073) - c.1387G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs2131497851 | 463 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135768872C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768872C>T Locations: - p.Ala463Val (Ensembl:ENST00000631073) - c.1388C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99705370 | 464 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135768874C>T Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768874C>T Locations: - p.P464S (NCI-TCGA:ENST00000631073) - p.Pro464Ser (cosmic curated:ENST00000631073) - c.1390C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs759881953 | 464 | P>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135768874C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768874C>A Locations: - p.Pro464Thr (Ensembl:ENST00000631073) - c.1390C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1832516731 | 465 | N>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.22) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135768877A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768877A>G Locations: - p.Asn465Asp (Ensembl:ENST00000631073) - c.1393A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1424563729 | 465 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.322) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135768878A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768878A>G Locations: - p.Asn465Ser (Ensembl:ENST00000631073) - c.1394A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53706952 | 466 | C>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135768880T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135768880T>C Locations: - p.Cys466Arg (cosmic curated:ENST00000631073) - c.1396T>C (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53706252 | 466 | C>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135768881G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135768881G>A Locations: - p.Cys466Tyr (cosmic curated:ENST00000631073) - c.1397G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53706970 | 467 | P>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135768884C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135768884C>T Locations: - p.Pro467Leu (cosmic curated:ENST00000631073) - c.1400C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53701856 | 467 | P>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135768883C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135768883C>A Locations: - p.Pro467Thr (cosmic curated:ENST00000631073) - c.1399C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1351685037 | 468 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135768886C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768886C>T Locations: - p.Leu468Phe (Ensembl:ENST00000631073) - c.1402C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99705618 | 468 | L>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135768886C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135768886C>A Locations: - p.Leu468Ile (cosmic curated:ENST00000631073) - c.1402C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001351707 rs368322298 | 470 | V>I | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.526) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135768892G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768892G>A Locations: - p.Val470Ile (Ensembl:ENST00000631073) - c.1408G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV53709683 | 471 | Q>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135768897G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135768897G>T Locations: - p.Gln471His (cosmic curated:ENST00000631073) - c.1413G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53707001 | 471 | Q>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135768895C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135768895C>A Locations: - p.Gln471Lys (cosmic curated:ENST00000631073) - c.1411C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99706671 rs750267867 | 471 | Q>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000009.12:g.135768896A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768896A>G Locations: - p.Q471R (NCI-TCGA:ENST00000631073) - p.Gln471Arg (Ensembl:ENST00000631073) - c.1412A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53699911 | 473 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135768901C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135768901C>T Locations: - p.Leu473Phe (cosmic curated:ENST00000631073) - c.1417C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs779779036 | 476 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135768910G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768910G>A Locations: - p.Glu476Lys (Ensembl:ENST00000631073) - c.1426G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs779779036 | 476 | E>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135768910G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768910G>C Locations: - p.Glu476Gln (Ensembl:ENST00000631073) - c.1426G>C (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV99706625 | 477 | N>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135768915C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135768915C>A Locations: - p.Asn477Lys (cosmic curated:ENST00000631073) - c.1431C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001822988 RCV003314020 rs2131497737 | 477 | N>P | KCNT1-related channelopathy (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135768851_135768912dup Codon: GCCTGGGCCGTGAAGGACTTCGCCCCCAACTGCCCCCTCTACGTCCAGATCCTCAAACCTGAA/GCCTGGGCCGTGAAGGACTTCGCCCCCAACTGCCCCCTCTACGTCCAGATCCTCAAACCTGAACCTGGGCCGTGAAGGACTTCGCCCCCAACTGCCCCCTCTACGTCCAGATCCTCAAACCTGAA Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768851_135768912dup Locations: - p.Asn477ProfsTer4 (Ensembl:ENST00000631073) - c.1367_1428dup (Ensembl:ENST00000631073) Disease association: - Developmental and epileptic encephalopathy, 14 (DEE14) - KCNT1-related channelopathy Source type: large scale study Cross-references: | |||||||
RCV000810474 rs1245114972 | 478 | K>R | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.959) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135768917A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768917A>G Locations: - p.Lys478Arg (Ensembl:ENST00000631073) - c.1433A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
CA375505702 RCV000519276 rs1554774362 | 480 | H>R | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135768923A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768923A>G Locations: - p.His480Arg (Ensembl:ENST00000631073) - c.1439A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV104556799 | 480 | H>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135768922C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135768922C>T Locations: - p.His480Tyr (cosmic curated:ENST00000631073) - c.1438C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53704801 RCV000809850 RCV003424351 rs778483249 | 481 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.099) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.0000161 (gnomAD) - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135768925G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768925G>A Locations: - p.V481I (NCI-TCGA:ENST00000631073) - p.Val481Ile (Ensembl:ENST00000631073) - c.1441G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1212956742 | 484 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.64) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135768935C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135768935C>T Locations: - p.Ala484Val (Ensembl:ENST00000631073) - c.1451C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1340829259 | 485 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.889) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135769947A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135769947A>G Locations: - p.Asp485Gly (Ensembl:ENST00000631073) - c.1454A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV105045285 | 485 | D>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135768937G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135768937G>A Locations: - p.Asp485Asn (cosmic curated:ENST00000631073) - c.1453G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1277401401 | 486 | H>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.123) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135769949C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135769949C>A Locations: - p.His486Asn (Ensembl:ENST00000631073) - c.1456C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV104556890 RCV001756867 RCV003107844 rs905524850 | 487 | V>M | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135769952G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135769952G>A Locations: - p.Val487Met (Ensembl:ENST00000631073) - c.1459G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53709817 | 488 | V>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135769955G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135769955G>T Locations: - p.Val488Leu (cosmic curated:ENST00000631073) - c.1462G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs2131504811 | 490 | E>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135769961G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135769961G>T Locations: - p.Glu490Ter (Ensembl:ENST00000631073) - c.1468G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1388040026 | 491 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135769964G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135769964G>A Locations: - p.Glu491Lys (Ensembl:ENST00000631073) - c.1471G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1300686209 | 492 | E>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135769968A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135769968A>C Locations: - p.Glu492Ala (Ensembl:ENST00000631073) - c.1475A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001300896 rs1832635534 | 493 | C>R | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.51) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135769970T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135769970T>C Locations: - p.Cys493Arg (Ensembl:ENST00000631073) - c.1477T>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1832635829 | 496 | A>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.855) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135769979G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135769979G>T Locations: - p.Ala496Ser (Ensembl:ENST00000631073) - c.1486G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV105822109 rs1832635829 | 496 | A>T | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135769979G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135769979G>A Locations: - p.Ala496Thr (Ensembl:ENST00000631073) - c.1486G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1337838818 | 497 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.076) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135769984G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135769984G>A Locations: - p.Met497Ile (Ensembl:ENST00000631073) - c.1491G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
VAR_078214 CA10603124 RCV000289855 RCV000417014 RCV001253472 RCV002519055 rs886041691 | 497 | M>V | DEE14 (UniProt) Malignant migrating partial seizures of infancy (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.135769982A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135769982A>G Locations: - p.Met497Val (UniProt:Q5JUK3) - p.Met497Val (Ensembl:ENST00000631073) - c.1489A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy 14 (DEE14) - Developmental and epileptic encephalopathy, 14 (DEE14) - Malignant migrating partial seizures of infancy Source type: mixed | |||||||
rs751063680 | 499 | A>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135769989C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135769989C>A Locations: - p.Ala499Glu (Ensembl:ENST00000631073) - c.1496C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs751063680 | 499 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00000606 (gnomAD) Accession: NC_000009.12:g.135769989C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135769989C>T Locations: - p.A499V (NCI-TCGA:ENST00000631073) - p.Ala499Val (Ensembl:ENST00000631073) - c.1496C>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV53695815 rs1490595176 | 505 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000006105 (gnomAD) Accession: NC_000009.12:g.135770007C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770007C>T Locations: - p.P505L (NCI-TCGA:ENST00000631073) - p.Pro505Leu (Ensembl:ENST00000631073) - c.1514C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53695815 | 505 | P>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135770007C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135770007C>A Locations: - p.Pro505Gln (cosmic curated:ENST00000631073) - c.1514C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99704805 rs756683505 | 506 | A>V | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135770010C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770010C>T Locations: - p.Ala506Val (Ensembl:ENST00000631073) - c.1517C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV002036575 RCV003134371 rs753874335 | 507 | T>I | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.118) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135770013C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770013C>T Locations: - p.Thr507Ile (Ensembl:ENST00000631073) - c.1520C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs753874335 | 507 | T>S | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.586) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770013C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770013C>G Locations: - p.Thr507Ser (Ensembl:ENST00000631073) - c.1520C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1161171006 | 510 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.296) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770021C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770021C>T Locations: - p.Leu510Phe (Ensembl:ENST00000631073) - c.1528C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs867265348 | 512 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770028C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770028C>T Locations: - p.Thr512Ile (Ensembl:ENST00000631073) - c.1535C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1588358872 | 512 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.64) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770027A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770027A>T Locations: - p.Thr512Ser (Ensembl:ENST00000631073) - c.1534A>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1324250121 | 515 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770036G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770036G>T Locations: - p.Val515Leu (Ensembl:ENST00000631073) - c.1543G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001585262 rs1430492627 | 517 | T>M | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770043C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770043C>T Locations: - p.Thr517Met (Ensembl:ENST00000631073) - c.1550C>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1832640275 | 518 | S>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.904) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770045T>G Codon: TCC/GCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770045T>G Locations: - p.Ser518Ala (Ensembl:ENST00000631073) - c.1552T>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1832640435 | 518 | S>Y | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770046C>A Codon: TCC/TAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770046C>A Locations: - p.Ser518Tyr (Ensembl:ENST00000631073) - c.1553C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5326971 RCV000429853 RCV000804807 rs774588571 | 519 | R>C | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135770048C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770048C>T Locations: - p.Arg519Cys (Ensembl:ENST00000631073) - c.1555C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001878810 rs748178951 | 519 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.203) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000006513 (gnomAD) - MAF: 0.00005 (ClinVar) Accession: NC_000009.12:g.135770049G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770049G>A Locations: - p.R519H (NCI-TCGA:ENST00000631073) - p.Arg519His (Ensembl:ENST00000631073) - c.1556G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs774588571 | 519 | R>S | Likely pathogenic (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.085) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770048C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770048C>A Locations: - p.Arg519Ser (Ensembl:ENST00000631073) - c.1555C>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
RCV001372542 rs1035980360 | 520 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.946) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000006525 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135770051G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770051G>A Locations: - p.G520S (NCI-TCGA:ENST00000631073) - p.Gly520Ser (Ensembl:ENST00000631073) - c.1558G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1282457084 | 521 | Q>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.271) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770054C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770054C>A Locations: - p.Gln521Lys (Ensembl:ENST00000631073) - c.1561C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001294406 RCV002543027 rs1446587740 | 521 | Q>R | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135770055A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770055A>G Locations: - p.Gln521Arg (Ensembl:ENST00000631073) - c.1562A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study Cross-references: | |||||||
COSV53699345 | 522 | E>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135770301G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135770301G>T Locations: - p.Glu522Asp (cosmic curated:ENST00000631073) - c.1566G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001298485 rs753040489 | 522 | E>K | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.323) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135770299G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770299G>A Locations: - p.Glu522Lys (Ensembl:ENST00000631073) - c.1564G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV105045331 | 523 | G>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135770303G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135770303G>A Locations: - p.Gly523Glu (cosmic curated:ENST00000631073) - c.1568G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV105045372 | 523 | G>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135770302G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135770302G>A Locations: - p.Gly523Arg (cosmic curated:ENST00000631073) - c.1567G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001847378 rs1479237463 | 524 | Q>* | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135770305C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770305C>T Locations: - p.Gln524Ter (Ensembl:ENST00000631073) - c.1570C>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1479237463 | 524 | Q>K | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.174) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770305C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770305C>A Locations: - p.Gln524Lys (Ensembl:ENST00000631073) - c.1570C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5327014 COSV53695100 RCV000431250 RCV000650685 RCV001081134 RCV002314148 rs200173000 | 524 | Q>R | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.79) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00041 (ClinVar) Accession: NC_000009.12:g.135770306A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770306A>G Locations: - p.Gln524Arg (Ensembl:ENST00000631073) - c.1571A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
RCV002028593 rs894604084 | 527 | P>A | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135770314C>G Codon: CCG/GCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770314C>G Locations: - p.Pro527Ala (Ensembl:ENST00000631073) - c.1579C>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
CA5327015 RCV000559303 RCV000786154 rs770986306 | 527 | P>L | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.318) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00004 (ClinVar) Accession: NC_000009.12:g.135770315C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770315C>T Locations: - p.Pro527Leu (Ensembl:ENST00000631073) - c.1580C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53698995 | 527 | P>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135770315C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135770315C>A Locations: - p.Pro527Gln (cosmic curated:ENST00000631073) - c.1580C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs894604084 | 527 | P>S | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770314C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770314C>T Locations: - p.Pro527Ser (Ensembl:ENST00000631073) - c.1579C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53697604 | 529 | Q>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135770320C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135770320C>T Locations: - p.Gln529Ter (cosmic curated:ENST00000631073) - c.1585C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1832665589 | 529 | Q>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770321A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770321A>C Locations: - p.Gln529Pro (Ensembl:ENST00000631073) - c.1586A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000686005 rs1564370162 | 530 | W>G | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.11) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770323T>G Codon: TGG/GGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770323T>G Locations: - p.Trp530Gly (Ensembl:ENST00000631073) - c.1588T>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV002005391 RCV003126053 rs749316999 | 532 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000008092 (gnomAD) - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135770329C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770329C>T Locations: - p.R532C (NCI-TCGA:ENST00000631073) - p.Arg532Cys (Ensembl:ENST00000631073) - c.1594C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV000801341 rs567764094 | 532 | R>H | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.929) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) - MAF: 0.000196232 (1000Genomes) Accession: NC_000009.12:g.135770330G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770330G>A Locations: - p.Arg532His (Ensembl:ENST00000631073) - c.1595G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV000659135 rs567764094 | 532 | R>L | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.568) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) - MAF: 0.000196232 (1000Genomes) Accession: NC_000009.12:g.135770330G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770330G>T Locations: - p.Arg532Leu (Ensembl:ENST00000631073) - c.1595G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs749316999 | 532 | R>S | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.184) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770329C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770329C>A Locations: - p.Arg532Ser (Ensembl:ENST00000631073) - c.1594C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1165327237 | 533 | M>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135770334G>T, NC_000009.12:g.135770334G>A Codon: ATG/ATT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770334G>T, NC_000009.12:g.135770334G>A Locations: - p.Met533Ile (Ensembl:ENST00000631073) - c.1599G>T (Ensembl:ENST00000631073) - c.1599G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001949892 rs2131507644 | 533 | M>V | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135770332A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770332A>G Locations: - p.Met533Val (Ensembl:ENST00000631073) - c.1597A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001000990 rs1588359968 | 535 | G>E | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.665) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770339G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770339G>A Locations: - p.Gly535Glu (Ensembl:ENST00000631073) - c.1604G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1588359968 | 535 | G>V | Likely pathogenic (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.137) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770339G>T Codon: GGG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770339G>T Locations: - p.Gly535Val (Ensembl:ENST00000631073) - c.1604G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001319867 rs774249834 | 536 | R>C | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135770341C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770341C>T Locations: - p.Arg536Cys (Ensembl:ENST00000631073) - c.1606C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
CA5327020 COSV53695913 RCV000415750 RCV002481289 rs764477306 | 536 | R>H | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.642) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135770342G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770342G>A Locations: - p.Arg536His (Ensembl:ENST00000631073) - c.1607G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs764477306 | 536 | R>P | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.928) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770342G>C Codon: CGC/CCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770342G>C Locations: - p.Arg536Pro (Ensembl:ENST00000631073) - c.1607G>C (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs771881853 | 537 | C>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135770346C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770346C>A Locations: - p.Cys537Ter (Ensembl:ENST00000631073) - c.1611C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000702329 rs1564370223 | 539 | G>C | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770350G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770350G>T Locations: - p.Gly539Cys (Ensembl:ENST00000631073) - c.1615G>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs760272242 | 539 | G>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.967) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135770351G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770351G>T Locations: - p.Gly539Val (Ensembl:ENST00000631073) - c.1616G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53702067 | 541 | E>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135770357A>G Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770357A>G Locations: - p.E541G (NCI-TCGA:ENST00000631073) - p.Glu541Gly (cosmic curated:ENST00000631073) - c.1622A>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001237251 rs765969410 | 541 | E>K | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.573) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135770356G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770356G>A Locations: - p.Glu541Lys (Ensembl:ENST00000631073) - c.1621G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs760141025 | 543 | Y>* | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135770364C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770364C>G Locations: - p.Tyr543Ter (Ensembl:ENST00000631073) - c.1629C>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
RCV001342352 rs1832668143 | 543 | Y>C | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770363A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770363A>G Locations: - p.Tyr543Cys (Ensembl:ENST00000631073) - c.1628A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001035197 rs1190253737 | 544 | H>Y | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.754) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135770365C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770365C>T Locations: - p.His544Tyr (Ensembl:ENST00000631073) - c.1630C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1832668757 | 545 | I>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.84) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770370C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770370C>G Locations: - p.Ile545Met (Ensembl:ENST00000631073) - c.1635C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV105045235 rs535093138 | 546 | R>C | Variant of uncertain significance (Ensembl) | cosmic curated 1000Genomes ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.606) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135770371C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770371C>T Locations: - p.Arg546Cys (Ensembl:ENST00000631073) - c.1636C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5327029 COSV53698868 RCV000815790 RCV001697531 RCV002270760 RCV002270761 RCV003258888 rs769855266 | 546 | R>H | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.606) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Population frequencies: - MAF: 0.00007 (ClinVar) Accession: NC_000009.12:g.135770372G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770372G>A Locations: - p.Arg546His (Ensembl:ENST00000631073) - c.1637G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
rs769855266 | 546 | R>L | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770372G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770372G>T Locations: - p.Arg546Leu (Ensembl:ENST00000631073) - c.1637G>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs769855266 | 546 | R>P | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.844) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770372G>C Codon: CGC/CCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770372G>C Locations: - p.Arg546Pro (Ensembl:ENST00000631073) - c.1637G>C (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs890228967 COSV53709589 | 547 | M>I | Ensembl cosmic curated | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135770376G>A, NC_000009.12:g.135770376G>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770376G>A, NC_000009.12:g.135770376G>T Locations: - p.Met547Ile (Ensembl:ENST00000631073) - c.1641G>A (Ensembl:ENST00000631073) - p.Met547Ile (cosmic curated:ENST00000631073) - c.1641G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1832669452 | 547 | M>L | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_000009.12:g.135770374A>C Codon: ATG/CTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770374A>C Locations: - p.Met547Leu (Ensembl:ENST00000631073) - c.1639A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001302958 rs1832669667 | 547 | M>T | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.251) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135770375T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770375T>C Locations: - p.Met547Thr (Ensembl:ENST00000631073) - c.1640T>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001758783 RCV002540422 rs1832669452 | 547 | M>V | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770374A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770374A>G Locations: - p.Met547Val (Ensembl:ENST00000631073) - c.1639A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
CA658797373 RCV000650635 rs1554774874 | 547-548 | MG>IS | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.135770376_135770377delinsTA Codon: ATGGGT/ATTAGT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770376_135770377delinsTA Locations: - p.Met547_Gly548delinsIleSer (Ensembl:ENST00000631073) - c.1641_1642delinsTA (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
CA5327033 RCV000650643 RCV001592817 rs781375160 | 548 | G>V | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135770378G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770378G>T Locations: - p.Gly548Val (Ensembl:ENST00000631073) - c.1643G>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs745911061 | 549 | D>G | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.642) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135770381A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770381A>G Locations: - p.Asp549Gly (Ensembl:ENST00000631073) - c.1646A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53700942 | 550 | S>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135770383A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135770383A>T Locations: - p.Ser550Cys (cosmic curated:ENST00000631073) - c.1648A>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs577872126 | 550 | S>N | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000009.12:g.135770384G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770384G>A Locations: - p.Ser550Asn (Ensembl:ENST00000631073) - c.1649G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1489231448 | 551 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770387A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770387A>G Locations: - p.Lys551Arg (Ensembl:ENST00000631073) - c.1652A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53699142 | 552 | F>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135770391C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135770391C>A Locations: - p.Phe552Leu (cosmic curated:ENST00000631073) - c.1656C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs771931121 | 553 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.79) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770392T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770392T>C Locations: - p.Phe553Leu (Ensembl:ENST00000631073) - c.1657T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5327039 COSV53706654 RCV000596226 RCV001221030 RCV002270718 RCV002270719 rs557219607 | 554 | R>C | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA Cosmic ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.04) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000009.12:g.135770395C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770395C>T Locations: - p.R554C (NCI-TCGA:ENST00000631073) - p.Arg554Cys (Ensembl:ENST00000631073) - c.1660C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
CA5327040 RCV000650640 RCV000762594 RCV001591126 RCV002402378 rs575162600 | 554 | R>H | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.548) - SIFT: deleterious - low confidence (0.04) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) - MAF: 0.000196232 (1000Genomes) Accession: NC_000009.12:g.135770396G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770396G>A Locations: - p.Arg554His (Ensembl:ENST00000631073) - c.1661G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
COSV53706654 | 554 | R>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135770395C>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770395C>A Locations: - p.R554S (NCI-TCGA:ENST00000631073) - p.Arg554Ser (cosmic curated:ENST00000631073) - c.1660C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99705440 | 555 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135770398G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135770398G>T Locations: - p.Glu555Ter (cosmic curated:ENST00000631073) - c.1663G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53701149 | 555 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135770398G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135770398G>A Locations: - p.Glu555Lys (cosmic curated:ENST00000631073) - c.1663G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA240952 COSV53709629 RCV000724878 RCV001081967 RCV002312712 RCV003947481 RCV004700536 rs147306623 | 557 | E>K | KCNT1-related disorder (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Population frequencies: - MAF: 0.0004 (ClinVar) Accession: NC_000009.12:g.135770404G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770404G>A Locations: - p.Glu557Lys (Ensembl:ENST00000631073) - c.1669G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases - KCNT1-related disorder Source type: large scale study Cross-references: | |||||||
RCV001532657 RCV002568910 rs1220099278 | 558 | G>S | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135770407G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770407G>A Locations: - p.Gly558Ser (Ensembl:ENST00000631073) - c.1672G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs758931831 | 559 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.749) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135770410A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770410A>G Locations: - p.Lys559Glu (Ensembl:ENST00000631073) - c.1675A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs765782980 | 559 | K>M | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.477) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770411A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770411A>T Locations: - p.Lys559Met (Ensembl:ENST00000631073) - c.1676A>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1316355831 | 560 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.487) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770414G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770414G>A Locations: - p.Ser560Asn (Ensembl:ENST00000631073) - c.1679G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
VAR_078641 rs1185192267 | 562 | T>I | DEE14; uncertain significance (UniProt) | Variant of uncertain significance (Ensembl, UniProt) | UniProt dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.135770420C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770420C>T Locations: - p.Thr562Ile (UniProt:Q5JUK3) - p.Thr562Ile (Ensembl:ENST00000631073) - c.1685C>T (Ensembl:ENST00000631073) Disease association: - Developmental and epileptic encephalopathy 14 (DEE14) Source type: mixed | |||||||
RCV001066643 rs1832673206 | 563 | Y>C | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770423A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770423A>G Locations: - p.Tyr563Cys (Ensembl:ENST00000631073) - c.1688A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
CA375506803 RCV000650630 rs1554774904 | 564 | A>G | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.506) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.135770426C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770426C>G Locations: - p.Ala564Gly (Ensembl:ENST00000631073) - c.1691C>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV99706183 rs200110001 | 564 | A>T | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.847) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135770425G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770425G>A Locations: - p.Ala564Thr (Ensembl:ENST00000631073) - c.1690G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
RCV001226099 RCV002270992 RCV002270993 RCV002314397 rs1554774904 | 564 | A>V | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.815) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770426C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770426C>T Locations: - p.Ala564Val (Ensembl:ENST00000631073) - c.1691C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
RCV002025142 rs1423355423 | 565 | A>V | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.194) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135770429C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770429C>T Locations: - p.Ala565Val (Ensembl:ENST00000631073) - c.1694C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1832674377 | 566 | F>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.275) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135770433C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770433C>G Locations: - p.Phe566Leu (Ensembl:ENST00000631073) - c.1698C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001955243 rs142760483 | 567 | H>Q | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.929) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000009.12:g.135770436C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770436C>A Locations: - p.His567Gln (Ensembl:ENST00000631073) - c.1701C>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001457213 RCV003327471 rs144421853 | 568 | A>T | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.82) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00006 (ClinVar) Accession: NC_000009.12:g.135770437G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770437G>A Locations: - p.Ala568Thr (Ensembl:ENST00000631073) - c.1702G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001944237 rs2131508404 | 568 | A>V | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.467) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770438C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770438C>T Locations: - p.Ala568Val (Ensembl:ENST00000631073) - c.1703C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1488722147 | 569 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135770441A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770441A>G Locations: - p.His569Arg (Ensembl:ENST00000631073) - c.1706A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1832674799 | 569 | H>Y | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.479) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770440C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770440C>T Locations: - p.His569Tyr (Ensembl:ENST00000631073) - c.1705C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001237740 rs1217094996 | 570 | K>R | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135770444A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770444A>G Locations: - p.Lys570Arg (Ensembl:ENST00000631073) - c.1709A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs756080429 | 571 | K>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.353) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.135770447A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770447A>G Locations: - p.Lys571Arg (Ensembl:ENST00000631073) - c.1712A>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1217452453 | 572 | Y>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.481) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770858T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770858T>C Locations: - p.Tyr572His (Ensembl:ENST00000631073) - c.1714T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1317190673 | 573 | G>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770861G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770861G>A Locations: - p.Gly573Ser (Ensembl:ENST00000631073) - c.1717G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1175078708 | 574 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770865T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770865T>G Locations: - p.Val574Gly (Ensembl:ENST00000631073) - c.1721T>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs779590747 | 574 | V>L | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.437) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135770864G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770864G>C Locations: - p.Val574Leu (Ensembl:ENST00000631073) - c.1720G>C (Ensembl:ENST00000631073) Source type: large scale study | |||||||
CA5327077 RCV000415957 RCV000606714 RCV001861460 RCV002318370 rs779590747 | 574 | V>M | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00008 (ClinVar) Accession: NC_000009.12:g.135770864G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770864G>A Locations: - p.Val574Met (Ensembl:ENST00000631073) - c.1720G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
RCV001206171 rs950983477 | 576 | L>F | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00004 (ClinVar) Accession: NC_000009.12:g.135770870C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770870C>T Locations: - p.Leu576Phe (Ensembl:ENST00000631073) - c.1726C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV53709549 | 576 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135770870C>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770870C>A Locations: - p.L576I (NCI-TCGA:ENST00000631073) - p.Leu576Ile (cosmic curated:ENST00000631073) - c.1726C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1832706625 | 577 | I>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.715) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770873A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770873A>T Locations: - p.Ile577Phe (Ensembl:ENST00000631073) - c.1729A>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV104556784 | 578 | G>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135770877G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135770877G>A Locations: - p.Gly578Glu (cosmic curated:ENST00000631073) - c.1733G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs774652778 | 578 | G>R | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770876G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770876G>A Locations: - p.Gly578Arg (Ensembl:ENST00000631073) - c.1732G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
RCV001351101 rs762247965 | 580 | K>N | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.452) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000009.12:g.135770884G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770884G>T Locations: - p.Lys580Asn (Ensembl:ENST00000631073) - c.1740G>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs772378108 | 581 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.299) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770885C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770885C>G Locations: - p.Arg581Gly (Ensembl:ENST00000631073) - c.1741C>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
CA5327083 RCV000417036 RCV001034356 rs773621687 | 581 | R>Q | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.00013 (ClinVar) Accession: NC_000009.12:g.135770886G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770886G>A Locations: - p.Arg581Gln (Ensembl:ENST00000631073) - c.1742G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs772378108 | 581 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.899) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770885C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770885C>T Locations: - p.Arg581Trp (Ensembl:ENST00000631073) - c.1741C>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1281381472 | 582 | E>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135770888G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770888G>T Locations: - p.Glu582Ter (Ensembl:ENST00000631073) - c.1744G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1033154988 | 584 | N>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000009.12:g.135770894A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770894A>G Locations: - p.Asn584Asp (Ensembl:ENST00000631073) - c.1750A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs766684511 | 584 | N>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770896C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770896C>G Locations: - p.Asn584Lys (Ensembl:ENST00000631073) - c.1752C>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs957136245 | 584 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000009.12:g.135770895A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770895A>G Locations: - p.Asn584Ser (Ensembl:ENST00000631073) - c.1751A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1345537311 | 585 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770897A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770897A>G Locations: - p.Lys585Glu (Ensembl:ENST00000631073) - c.1753A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs865911590 | 586 | S>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770900A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770900A>G Locations: - p.Ser586Gly (Ensembl:ENST00000631073) - c.1756A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1246278666 | 586 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.135770901G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770901G>A Locations: - p.Ser586Asn (Ensembl:ENST00000631073) - c.1757G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001930645 rs113201678 | 586 | S>R | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770902C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770902C>A Locations: - p.Ser586Arg (Ensembl:ENST00000631073) - c.1758C>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs148403214 | 587 | I>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.371) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770903A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770903A>G Locations: - p.Ile587Val (Ensembl:ENST00000631073) - c.1759A>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1588362123 | 590 | N>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135770913A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770913A>C Locations: - p.Asn590Thr (Ensembl:ENST00000631073) - c.1769A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs547146385 | 591 | P>L | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000009.12:g.135770916C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770916C>T Locations: - p.Pro591Leu (Ensembl:ENST00000631073) - c.1772C>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1219746061 | 591 | P>T | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770915C>A Codon: CCG/ACG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770915C>A Locations: - p.Pro591Thr (Ensembl:ENST00000631073) - c.1771C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV105045332 | 592 | G>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135770918G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135770918G>A Locations: - p.Gly592Arg (cosmic curated:ENST00000631073) - c.1774G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53709395 | 593 | P>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135770922C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135770922C>T Locations: - p.Pro593Leu (cosmic curated:ENST00000631073) - c.1778C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs2131510790 | 593 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.638) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770922C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770922C>G Locations: - p.Pro593Arg (Ensembl:ENST00000631073) - c.1778C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000805044 rs1330106369 | 593 | P>S | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.419) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135770921C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770921C>T Locations: - p.Pro593Ser (Ensembl:ENST00000631073) - c.1777C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV99706900 | 594 | R>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135770924C>G Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770924C>G Locations: - p.R594G (NCI-TCGA:ENST00000631073) - p.Arg594Gly (cosmic curated:ENST00000631073) - c.1780C>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001037669 RCV001585675 RCV002318003 rs571757257 | 594 | R>Q | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) - MAF: 0.000196232 (1000Genomes) Accession: NC_000009.12:g.135770925G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770925G>A Locations: - p.Arg594Gln (Ensembl:ENST00000631073) - c.1781G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
RCV001059750 RCV003132193 rs779639843 | 594 | R>W | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.078) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135770924C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770924C>T Locations: - p.Arg594Trp (Ensembl:ENST00000631073) - c.1780C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV99707270 | 595 | H>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135770928A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135770928A>G Locations: - p.His595Arg (cosmic curated:ENST00000631073) - c.1784A>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA375508208 RCV000519559 rs1554775058 | 595 | H>Y | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135770927C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770927C>T Locations: - p.His595Tyr (Ensembl:ENST00000631073) - c.1783C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs778473547 | 596 | I>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770930A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770930A>T Locations: - p.Ile596Phe (Ensembl:ENST00000631073) - c.1786A>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs778473547 | 596 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.135770930A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770930A>G Locations: - p.Ile596Val (Ensembl:ENST00000631073) - c.1786A>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1228305658 | 598 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135770937C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770937C>T Locations: - p.Ala598Val (Ensembl:ENST00000631073) - c.1793C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV002009336 rs756996609 | 599 | A>T | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000009.12:g.135770939G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770939G>A Locations: - p.Ala599Thr (Ensembl:ENST00000631073) - c.1795G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV001305451 RCV002543135 rs1832713510 | 599 | A>V | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.135770940C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770940C>T Locations: - p.Ala599Val (Ensembl:ENST00000631073) - c.1796C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study Cross-references: | |||||||
rs1832713778 | 600 | S>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.135770942T>G Codon: TCT/GCT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770942T>G Locations: - p.Ser600Ala (Ensembl:ENST00000631073) - c.1798T>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs921566484 | 602 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.19) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770948A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770948A>G Locations: - p.Thr602Ala (Ensembl:ENST00000631073) - c.1804A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001823603 RCV002542737 rs151006970 | 602 | T>I | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135770949C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770949C>T Locations: - p.Thr602Ile (Ensembl:ENST00000631073) - c.1805C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV001347279 rs151006970 | 602 | T>N | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.385) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770949C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770949C>A Locations: - p.Thr602Asn (Ensembl:ENST00000631073) - c.1805C>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs921566484 | 602 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.765) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770948A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770948A>C Locations: - p.Thr602Pro (Ensembl:ENST00000631073) - c.1804A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1832714702 | 604 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.693) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135770956C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770956C>G Locations: - p.Phe604Leu (Ensembl:ENST00000631073) - c.1812C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001308728 rs1392866875 | 604 | F>L | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.693) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135770954T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770954T>C Locations: - p.Phe604Leu (Ensembl:ENST00000631073) - c.1810T>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV001325740 rs1832714833 | 605 | Y>H | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770957T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770957T>C Locations: - p.Tyr605His (Ensembl:ENST00000631073) - c.1813T>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs772600146 | 605 | Y>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770958A>C Codon: TAC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770958A>C Locations: - p.Tyr605Ser (Ensembl:ENST00000631073) - c.1814A>C (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs780921100 | 606 | I>V | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.819) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135770960A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770960A>G Locations: - p.Ile606Val (Ensembl:ENST00000631073) - c.1816A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1447648737 | 607 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.409) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770963A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770963A>G Locations: - p.Asn607Asp (Ensembl:ENST00000631073) - c.1819A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1390637788 | 607 | N>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.409) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770965C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770965C>A Locations: - p.Asn607Lys (Ensembl:ENST00000631073) - c.1821C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs139988185 | 607 | N>S | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770964A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770964A>G Locations: - p.Asn607Ser (Ensembl:ENST00000631073) - c.1820A>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
CA231206 COSV106095319 RCV000117360 RCV000601184 RCV001080289 RCV002408619 RCV003925142 rs143355299 | 608 | I>V | KCNT1-related disorder (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00103 (ClinVar) Accession: NC_000009.12:g.135770966A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770966A>G Locations: - p.Ile608Val (Ensembl:ENST00000631073) - c.1822A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases - KCNT1-related disorder Source type: large scale study | |||||||
rs1057522978 | 610 | K>* | Pathogenic (Ensembl) | Ensembl | |||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135770972A>T Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770972A>T Locations: - p.Lys610Ter (Ensembl:ENST00000631073) - c.1828A>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA16606397 RCV000425973 RCV001383750 RCV001731682 rs1057522978 | 610 | K>E | Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.714) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770972A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770972A>G Locations: - p.Lys610Glu (Ensembl:ENST00000631073) - c.1828A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001089750 rs1057522978 | 610 | K>Q | Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.414) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770972A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770972A>C Locations: - p.Lys610Gln (Ensembl:ENST00000631073) - c.1828A>C (Ensembl:ENST00000631073) Disease association: - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1405559720 | 611 | E>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135770975G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770975G>T Locations: - p.Glu611Ter (Ensembl:ENST00000631073) - c.1831G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53706746 | 611 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135770975G>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770975G>A Locations: - p.E611K (NCI-TCGA:ENST00000631073) - p.Glu611Lys (cosmic curated:ENST00000631073) - c.1831G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV105045368 | 612 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135770978G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135770978G>A Locations: - p.Glu612Lys (cosmic curated:ENST00000631073) - c.1834G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA201473446 RCV000522716 RCV000555376 RCV002270633 RCV002270634 rs377750450 | 614 | S>L | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen ClinVar ESP TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.427) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000004002 (gnomAD) - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135770985C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770985C>T Locations: - p.S614L (NCI-TCGA:ENST00000631073) - p.Ser614Leu (Ensembl:ENST00000631073) - c.1841C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1377664941 | 617 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135770993A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770993A>G Locations: - p.Ile617Val (Ensembl:ENST00000631073) - c.1849A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001770859 rs759819281 | 618 | F>L | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770998C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770998C>G Locations: - p.Phe618Leu (Ensembl:ENST00000631073) - c.1854C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001212322 rs1832717620 | 619 | K>E | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.094) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135770999A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135770999A>G Locations: - p.Lys619Glu (Ensembl:ENST00000631073) - c.1855A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1056279495 | 619 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135771001G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771001G>C Locations: - p.Lys619Asn (Ensembl:ENST00000631073) - c.1857G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs896410305 | 621 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135771006A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771006A>G Locations: - p.Glu621Gly (Ensembl:ENST00000631073) - c.1862A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs765305702 | 621 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135771005G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771005G>A Locations: - p.Glu621Lys (Ensembl:ENST00000631073) - c.1861G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1832718291 | 622 | E>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135771009A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771009A>C Locations: - p.Glu622Ala (Ensembl:ENST00000631073) - c.1865A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000712122 rs1564371427 | 622 | E>K | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135771008G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771008G>A Locations: - p.Glu622Lys (Ensembl:ENST00000631073) - c.1864G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs146733790 | 623 | K>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135771012A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771012A>C Locations: - p.Lys623Thr (Ensembl:ENST00000631073) - c.1868A>C (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs532620254 | 624 | R>G | Likely benign (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135771014C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771014C>G Locations: - p.Arg624Gly (Ensembl:ENST00000631073) - c.1870C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5327107 RCV000659136 RCV001088079 RCV002313096 rs141281093 | 624 | R>Q | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Population frequencies: - MAF: 0.00032 (ClinVar) Accession: NC_000009.12:g.135771015G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771015G>A Locations: - p.Arg624Gln (Ensembl:ENST00000631073) - c.1871G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
CA241088 COSV53706081 RCV000175356 RCV000529124 RCV002269936 RCV002269937 rs532620254 | 624 | R>W | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.334) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000009.12:g.135771014C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771014C>T Locations: - p.Arg624Trp (Ensembl:ENST00000631073) - c.1870C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs755836695 | 626 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.46) Somatic: No Accession: NC_000009.12:g.135771021A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771021A>G Locations: - p.Lys626Arg (Ensembl:ENST00000631073) - c.1877A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs766030025 | 627 | R>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000009.12:g.135771024G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771024G>A Locations: - p.Arg627Lys (Ensembl:ENST00000631073) - c.1880G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
CA5327110 RCV000650631 rs753543470 | 627 | R>S | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135771025G>T Codon: AGG/AGT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771025G>T Locations: - p.Arg627Ser (Ensembl:ENST00000631073) - c.1881G>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV001973115 rs550751778 | 628 | A>D | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000009.12:g.135771027C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771027C>A Locations: - p.Ala628Asp (Ensembl:ENST00000631073) - c.1883C>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV001990231 rs550751778 | 628 | A>V | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) - MAF: 0.000196232 (1000Genomes) Accession: NC_000009.12:g.135771027C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771027C>T Locations: - p.Ala628Val (Ensembl:ENST00000631073) - c.1883C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
CA5327113 COSV53704769 RCV000539561 rs747671066 | 630 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001217 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135771033C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771033C>T Locations: - p.S630L (NCI-TCGA:ENST00000631073) - p.Ser630Leu (Ensembl:ENST00000631073) - c.1889C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001305637 rs747671066 | 630 | S>W | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.254) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135771033C>G Codon: TCG/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771033C>G Locations: - p.Ser630Trp (Ensembl:ENST00000631073) - c.1889C>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV53710440 | 631 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135771036G>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771036G>A Locations: - p.G631E (NCI-TCGA:ENST00000631073) - p.Gly631Glu (cosmic curated:ENST00000631073) - c.1892G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs568916509 | 632 | Q>K | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.11) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000009.12:g.135771038C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771038C>A Locations: - p.Gln632Lys (Ensembl:ENST00000631073) - c.1894C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000704954 rs1022928641 | 632 | Q>R | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135771039A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771039A>G Locations: - p.Gln632Arg (Ensembl:ENST00000631073) - c.1895A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV001296687 rs536588045 | 633 | G>E | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000009.12:g.135771042G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771042G>A Locations: - p.Gly633Glu (Ensembl:ENST00000631073) - c.1898G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV001298522 rs1832720528 | 633 | G>R | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135771041G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771041G>A Locations: - p.Gly633Arg (Ensembl:ENST00000631073) - c.1897G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001200199 RCV001859213 RCV002271190 RCV002271191 rs536588045 | 633 | G>V | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000009.12:g.135771042G>T Codon: GGG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771042G>T Locations: - p.Gly633Val (Ensembl:ENST00000631073) - c.1898G>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001920707 RCV002423030 rs771481255 | 634 | L>M | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.234) - SIFT: deleterious - low confidence (0.03) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135771044C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771044C>A Locations: - p.Leu634Met (Ensembl:ENST00000631073) - c.1900C>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study Cross-references: | |||||||
rs777130590 | 634 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000009.12:g.135771045T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771045T>C Locations: - p.Leu634Pro (Ensembl:ENST00000631073) - c.1901T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV105843931 COSV53707316 | 636 | E>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135771052G>T, NC_000009.12:g.135771052G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135771052G>T, NC_000009.12:g.135771052G>C Locations: - p.Glu636Asp (cosmic curated:ENST00000631073) - c.1908G>T (cosmic curated:ENST00000631073) - c.1908G>C (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53695173 RCV001297578 RCV001751565 RCV002271209 RCV002271210 rs770039542 | 636 | E>K | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001228 (gnomAD) - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135771050G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771050G>A Locations: - p.E636K (NCI-TCGA:ENST00000631073) - p.Glu636Lys (Ensembl:ENST00000631073) - c.1906G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
CA375508719 RCV001413961 rs770039542 | 636 | E>Q | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000009.12:g.135771050G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771050G>C Locations: - p.Glu636Gln (Ensembl:ENST00000631073) - c.1906G>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1832721615 | 637 | G>C | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.067) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135771053G>T Codon: GGT/TGT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771053G>T Locations: - p.Gly637Cys (Ensembl:ENST00000631073) - c.1909G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5327121 RCV000513604 RCV001324564 RCV002270607 RCV002270608 rs775458154 | 637 | G>D | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00004 (ClinVar) Accession: NC_000009.12:g.135771054G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771054G>A Locations: - p.Gly637Asp (Ensembl:ENST00000631073) - c.1910G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV002046304 rs1832721615 | 637 | G>S | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135771053G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771053G>A Locations: - p.Gly637Ser (Ensembl:ENST00000631073) - c.1909G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV002254129 rs763051647 | 638 | P>A | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135771056C>G Codon: CCG/GCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771056C>G Locations: - p.Pro638Ala (Ensembl:ENST00000631073) - c.1912C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53696323 RCV000816574 rs566157365 | 638 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000009.12:g.135771057C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771057C>T Locations: - p.P638L (NCI-TCGA:ENST00000631073) - p.Pro638Leu (Ensembl:ENST00000631073) - c.1913C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs763051647 | 638 | P>T | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135771056C>A Codon: CCG/ACG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771056C>A Locations: - p.Pro638Thr (Ensembl:ENST00000631073) - c.1912C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs760588512 | 639 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000009.12:g.135771059G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771059G>T Locations: - p.Ala639Ser (Ensembl:ENST00000631073) - c.1915G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs760588512 | 639 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135771059G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771059G>A Locations: - p.Ala639Thr (Ensembl:ENST00000631073) - c.1915G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs766224630 | 639 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135771060C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771060C>T Locations: - p.Ala639Val (Ensembl:ENST00000631073) - c.1916C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5327127 RCV000498415 RCV002506201 rs753599140 | 640 | R>C | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.672) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00005 (ClinVar) Accession: NC_000009.12:g.135771062C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771062C>T Locations: - p.Arg640Cys (Ensembl:ENST00000631073) - c.1918C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV000999282 RCV001858897 RCV002271156 RCV002271157 rs754634573 | 640 | R>H | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.506) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000009.12:g.135771063G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771063G>A Locations: - p.Arg640His (Ensembl:ENST00000631073) - c.1919G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1442527675 | 641 | L>P | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135771066T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771066T>C Locations: - p.Leu641Pro (Ensembl:ENST00000631073) - c.1922T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001888531 rs2131511927 | 642 | P>L | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.278) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135771069C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771069C>T Locations: - p.Pro642Leu (Ensembl:ENST00000631073) - c.1925C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001045021 rs757867931 | 643 | V>L | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135771071G>T, NC_000009.12:g.135771071G>C Codon: GTG/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771071G>T, NC_000009.12:g.135771071G>C Locations: - p.Val643Leu (Ensembl:ENST00000631073) - c.1927G>T (Ensembl:ENST00000631073) - c.1927G>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV53704687 RCV001911646 rs757867931 | 643 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0.03) Somatic: Yes Population frequencies: - MAF: 0.00001239 (gnomAD) Accession: NC_000009.12:g.135771071G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771071G>A Locations: - p.V643M (NCI-TCGA:ENST00000631073) - p.Val643Met (Ensembl:ENST00000631073) - c.1927G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001034458 rs1285595185 | 644 | H>R | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135771075A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771075A>G Locations: - p.His644Arg (Ensembl:ENST00000631073) - c.1931A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs950812891 | 645 | S>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.703) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135771077A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771077A>G Locations: - p.Ser645Gly (Ensembl:ENST00000631073) - c.1933A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001326018 rs1832724038 | 645 | S>N | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.174) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135771078G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771078G>A Locations: - p.Ser645Asn (Ensembl:ENST00000631073) - c.1934G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
CA16618796 RCV000484444 RCV001206823 RCV002270578 RCV002270579 rs376231681 | 647 | I>F | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar ESP TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.428) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00004 (ClinVar) Accession: NC_000009.12:g.135771083A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771083A>T Locations: - p.Ile647Phe (Ensembl:ENST00000631073) - c.1939A>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001764952 rs2131512046 | 647 | I>T | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135771084T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771084T>C Locations: - p.Ile647Thr (Ensembl:ENST00000631073) - c.1940T>C (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs781725359 | 648 | A>P | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.89) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135771086G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771086G>C Locations: - p.Ala648Pro (Ensembl:ENST00000631073) - c.1942G>C (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs781725359 | 648 | A>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.262) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135771086G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771086G>T Locations: - p.Ala648Ser (Ensembl:ENST00000631073) - c.1942G>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs781725359 | 648 | A>T | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.174) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135771086G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771086G>A Locations: - p.Ala648Thr (Ensembl:ENST00000631073) - c.1942G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs775711545 | 648 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.47) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135771087C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771087C>T Locations: - p.Ala648Val (Ensembl:ENST00000631073) - c.1943C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs768834841 | 649 | S>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.278) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135771090C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771090C>T Locations: - p.Ser649Phe (Ensembl:ENST00000631073) - c.1946C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV104556868 COSV53701364 | 650 | M>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135771094G>A, NC_000009.12:g.135771094G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135771094G>A, NC_000009.12:g.135771094G>T Locations: - p.Met650Ile (cosmic curated:ENST00000631073) - c.1950G>A (cosmic curated:ENST00000631073) - c.1950G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001062233 rs576552962 | 650 | M>V | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.14) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) - MAF: 0.000196232 (1000Genomes) Accession: NC_000009.12:g.135771092A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135771092A>G Locations: - p.Met650Val (Ensembl:ENST00000631073) - c.1948A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV105045301 | 651 | G>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135772715G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135772715G>A Locations: - p.Gly651Glu (cosmic curated:ENST00000631073) - c.1952G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001996799 rs1364315508 | 652 | T>A | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135772717A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772717A>G Locations: - p.Thr652Ala (Ensembl:ENST00000631073) - c.1954A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV001911757 rs1832838063 | 652 | T>I | Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135772718C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772718C>T Locations: - p.Thr652Ile (Ensembl:ENST00000631073) - c.1955C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1228569469 | 653 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772720G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772720G>A Locations: - p.Val653Met (Ensembl:ENST00000631073) - c.1957G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1054271091 | 654 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772723G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772723G>A Locations: - p.Ala654Thr (Ensembl:ENST00000631073) - c.1960G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV105045319 | 655 | M>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135772728G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135772728G>A Locations: - p.Met655Ile (cosmic curated:ENST00000631073) - c.1965G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5327169 RCV000650658 RCV004025812 rs753401695 | 655 | M>V | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135772726A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772726A>G Locations: - p.Met655Val (Ensembl:ENST00000631073) - c.1963A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
COSV53707476 | 656 | D>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135772729G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135772729G>A Locations: - p.Asp656Asn (cosmic curated:ENST00000631073) - c.1966G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA16612804 RCV000468291 RCV000839523 RCV002318570 rs1060505000 | 658 | Q>R | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135772736A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772736A>G Locations: - p.Gln658Arg (Ensembl:ENST00000631073) - c.1973A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
COSV53707661 | 659 | G>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135772738G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135772738G>T Locations: - p.Gly659Cys (cosmic curated:ENST00000631073) - c.1975G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001468844 rs2131520253 | 660 | T>I | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772742C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772742C>T Locations: - p.Thr660Ile (Ensembl:ENST00000631073) - c.1979C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1782852499 | 660 | T>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135772741A>T Codon: ACA/TCA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772741A>T Locations: - p.Thr660Ser (Ensembl:ENST00000631073) - c.1978A>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000695930 rs1207174167 | 661 | E>G | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135772745A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772745A>G Locations: - p.Glu661Gly (Ensembl:ENST00000631073) - c.1982A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1248003688 | 662 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772747C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772747C>T Locations: - p.His662Tyr (Ensembl:ENST00000631073) - c.1984C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA375510036 COSV99706366 RCV000516991 RCV000533463 RCV002270613 RCV002270614 RCV003159660 rs1188425438 | 663 | R>Q | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA Cosmic cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.1) Somatic: Yes Population frequencies: - MAF: 0.00001316 (gnomAD) - MAF: 0.00003 (ClinVar) Accession: NC_000009.12:g.135772751G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772751G>A Locations: - p.R663Q (NCI-TCGA:ENST00000631073) - p.Arg663Gln (Ensembl:ENST00000631073) - c.1988G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
RCV000693038 RCV001170059 RCV001702711 rs750994724 | 663 | R>W | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135772750C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772750C>T Locations: - p.Arg663Trp (Ensembl:ENST00000631073) - c.1987C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
CA375510067 RCV000498885 RCV002524107 rs1411700632 | 664 | P>H | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135772754C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772754C>A Locations: - p.Pro664His (Ensembl:ENST00000631073) - c.1991C>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
CA5327172 COSV104375563 RCV000650664 RCV001704286 RCV002270342 RCV002270343 RCV002313091 rs377506738 | 665 | T>M | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.154) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Population frequencies: - MAF: 0.0014 (ClinVar) Accession: NC_000009.12:g.135772757C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772757C>T Locations: - p.Thr665Met (Ensembl:ENST00000631073) - c.1994C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
RCV001952035 RCV002271307 RCV002271308 rs756570347 | 665 | T>P | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.13) Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000009.12:g.135772756A>C Codon: ACG/CCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772756A>C Locations: - p.Thr665Pro (Ensembl:ENST00000631073) - c.1993A>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1462835177 | 666 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135772759C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772759C>T Locations: - p.Gln666Ter (Ensembl:ENST00000631073) - c.1996C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV105045237 | 666 | Q>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135772759C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135772759C>A Locations: - p.Gln666Lys (cosmic curated:ENST00000631073) - c.1996C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53701542 rs111647144 | 667 | S>R | Likely benign (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000009.12:g.135772764C>A, NC_000009.12:g.135772764C>G Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772764C>A, NC_000009.12:g.135772764C>G Locations: - p.Ser667Arg (cosmic curated:ENST00000631073) - c.2001C>A (cosmic curated:ENST00000631073) - p.Ser667Arg (Ensembl:ENST00000631073) - c.2001C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1832843807 | 668 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772766G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772766G>A Locations: - p.Gly668Asp (Ensembl:ENST00000631073) - c.2003G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000999283 RCV001365039 RCV002271158 RCV002271159 rs1156662870 | 668 | G>S | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.2) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135772765G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772765G>A Locations: - p.Gly668Ser (Ensembl:ENST00000631073) - c.2002G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1017074909 | 669 | G>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000009.12:g.135772769G>C Codon: GGT/GCT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772769G>C Locations: - p.Gly669Ala (Ensembl:ENST00000631073) - c.2006G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99036649 | 669 | G>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135772768G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135772768G>T Locations: - p.Gly669Cys (cosmic curated:ENST00000631073) - c.2005G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000705393 RCV002270979 RCV002270980 RCV002536397 rs570983410 | 669 | G>S | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.11) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000009.12:g.135772768G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772768G>A Locations: - p.Gly669Ser (Ensembl:ENST00000631073) - c.2005G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
RCV001933299 rs777827895 | 671 | G>D | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.03) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135772775G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772775G>A Locations: - p.Gly671Asp (Ensembl:ENST00000631073) - c.2012G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV001045462 rs1410497158 | 671 | G>S | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.24) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135772774G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772774G>A Locations: - p.Gly671Ser (Ensembl:ENST00000631073) - c.2011G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs777827895 | 671 | G>V | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772775G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772775G>T Locations: - p.Gly671Val (Ensembl:ENST00000631073) - c.2012G>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1832845859 | 672 | G>E | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000009.12:g.135772778G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772778G>A Locations: - p.Gly672Glu (Ensembl:ENST00000631073) - c.2015G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV002038867 RCV003491023 rs769596439 | 672 | G>R | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0.03) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135772777G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772777G>A Locations: - p.Gly672Arg (Ensembl:ENST00000631073) - c.2014G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV002050234 rs922840311 | 673 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Population frequencies: - MAF: 0.0000217 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135772781G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772781G>A Locations: - p.G673D (NCI-TCGA:ENST00000631073) - p.Gly673Asp (Ensembl:ENST00000631073) - c.2018G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1336430001 | 673 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000009.12:g.135772780G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772780G>A Locations: - p.Gly673Ser (Ensembl:ENST00000631073) - c.2017G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs922840311 | 673 | G>V | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772781G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772781G>T Locations: - p.Gly673Val (Ensembl:ENST00000631073) - c.2018G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1832846763 | 674 | S>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000009.12:g.135772783A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772783A>G Locations: - p.Ser674Gly (Ensembl:ENST00000631073) - c.2020A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001034006 rs775382017 | 677 | A>V | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135772793C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772793C>T Locations: - p.Ala677Val (Ensembl:ENST00000631073) - c.2030C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV001305857 rs1832847354 | 680 | T>A | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.81) Somatic: No Accession: NC_000009.12:g.135772801A>G Codon: ACG/GCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772801A>G Locations: - p.Thr680Ala (Ensembl:ENST00000631073) - c.2038A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53700849 RCV000685851 RCV001815370 RCV002270963 RCV002270964 rs538197009 | 680 | T>M | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.055) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000009.12:g.135772802C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772802C>T Locations: - p.T680M (NCI-TCGA:ENST00000631073) - p.Thr680Met (Ensembl:ENST00000631073) - c.2039C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV105045182 TCGA novel | 681 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated NCI-TCGA | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135772804G>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772804G>A Locations: - p.E681K (NCI-TCGA:ENST00000631073) - p.Glu681Lys (cosmic curated:ENST00000631073) - c.2041G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
CA375510458 RCV000650651 rs1554775570 | 681 | E>Q | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772804G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772804G>C Locations: - p.Glu681Gln (Ensembl:ENST00000631073) - c.2041G>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV001347862 rs1588367542 | 682 | N>S | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772808A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772808A>G Locations: - p.Asn682Ser (Ensembl:ENST00000631073) - c.2045A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1588367542 | 682 | N>T | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135772808A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772808A>C Locations: - p.Asn682Thr (Ensembl:ENST00000631073) - c.2045A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1471718086 | 683 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772811G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772811G>A Locations: - p.Gly683Asp (Ensembl:ENST00000631073) - c.2048G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5327185 COSV53711032 RCV000601744 RCV000809855 RCV002270806 RCV002270807 rs550447485 | 683 | G>S | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.0004 (ClinVar) Accession: NC_000009.12:g.135772810G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772810G>A Locations: - p.Gly683Ser (Ensembl:ENST00000631073) - c.2047G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV105045168 rs761540434 | 684 | S>L | Variant of uncertain significance (Ensembl) | cosmic curated ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135772814C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772814C>T Locations: - p.Ser684Leu (Ensembl:ENST00000631073) - c.2051C>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1588367579 | 684 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135772813T>C Codon: TCG/CCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772813T>C Locations: - p.Ser684Pro (Ensembl:ENST00000631073) - c.2050T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1588367627 | 685 | G>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135772817G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772817G>C Locations: - p.Gly685Ala (Ensembl:ENST00000631073) - c.2054G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1588367627 | 685 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772817G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772817G>A Locations: - p.Gly685Asp (Ensembl:ENST00000631073) - c.2054G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1351231010 | 685 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000009.12:g.135772816G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772816G>A Locations: - p.Gly685Ser (Ensembl:ENST00000631073) - c.2053G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs2131521022 | 686 | S>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772820G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772820G>T Locations: - p.Ser686Ile (Ensembl:ENST00000631073) - c.2057G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001225893 rs761289867 | 687 | R>Q | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135772823G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772823G>A Locations: - p.Arg687Gln (Ensembl:ENST00000631073) - c.2060G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV53695780 rs1357319591 | 687 | R>W | Variant of uncertain significance (Ensembl) | cosmic curated TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.577) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135772822C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772822C>T Locations: - p.Arg687Trp (Ensembl:ENST00000631073) - c.2059C>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs568144711 | 688 | R>G | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.262) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000009.12:g.135772825C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772825C>G Locations: - p.Arg688Gly (Ensembl:ENST00000631073) - c.2062C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1407599692 | 688 | R>L | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.155) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772826G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772826G>T Locations: - p.Arg688Leu (Ensembl:ENST00000631073) - c.2063G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53709850 RCV001313685 rs1407599692 | 688 | R>Q | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135772826G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772826G>A Locations: - p.Arg688Gln (Ensembl:ENST00000631073) - c.2063G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
CA5327191 RCV000469815 rs568144711 | 688 | R>W | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.881) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.0004 (ClinVar) - MAF: 0.000196232 (1000Genomes) Accession: NC_000009.12:g.135772825C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772825C>T Locations: - p.Arg688Trp (Ensembl:ENST00000631073) - c.2062C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs892635002 | 689 | P>A | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772828C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772828C>G Locations: - p.Pro689Ala (Ensembl:ENST00000631073) - c.2065C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1351488560 | 689 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772829C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772829C>T Locations: - p.Pro689Leu (Ensembl:ENST00000631073) - c.2066C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001934388 RCV002466718 rs892635002 | 689 | P>T | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772828C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772828C>A Locations: - p.Pro689Thr (Ensembl:ENST00000631073) - c.2065C>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1225787764 | 690 | S>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772832G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772832G>T Locations: - p.Ser690Ile (Ensembl:ENST00000631073) - c.2069G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001341583 rs1277141686 | 692 | A>T | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.094) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135772837G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772837G>A Locations: - p.Ala692Thr (Ensembl:ENST00000631073) - c.2074G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV53696431 RCV001931478 rs1312096992 | 692 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000009.12:g.135772838C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772838C>T Locations: - p.A692V (NCI-TCGA:ENST00000631073) - p.Ala692Val (Ensembl:ENST00000631073) - c.2075C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53703931 RCV001051297 RCV001799725 rs945869943 | 694 | V>I | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.315) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135772843G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772843G>A Locations: - p.Val694Ile (Ensembl:ENST00000631073) - c.2080G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs866677249 | 696 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772849G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772849G>A Locations: - p.Glu696Lys (Ensembl:ENST00000631073) - c.2086G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs752522838 | 697 | L>M | Likely benign (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772852C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772852C>A Locations: - p.Leu697Met (Ensembl:ENST00000631073) - c.2089C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs752522838 | 697 | L>V | Likely benign (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000009.12:g.135772852C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772852C>G Locations: - p.Leu697Val (Ensembl:ENST00000631073) - c.2089C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53696264 rs1832853094 | 698 | A>G | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135772856C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772856C>G Locations: - p.Ala698Gly (Ensembl:ENST00000631073) - c.2093C>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV53701030 | 699 | D>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135772860C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135772860C>G Locations: - p.Asp699Glu (cosmic curated:ENST00000631073) - c.2097C>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001443452 rs777958749 | 699 | D>N | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.592) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00026 (ClinVar) Accession: NC_000009.12:g.135772858G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772858G>A Locations: - p.Asp699Asn (Ensembl:ENST00000631073) - c.2095G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV99706016 | 699 | D>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135772858G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135772858G>T Locations: - p.Asp699Tyr (cosmic curated:ENST00000631073) - c.2095G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs865775405 | 700 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.11) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772863C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772863C>A Locations: - p.Ser700Arg (Ensembl:ENST00000631073) - c.2100C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1423036413 | 701 | S>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772865C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772865C>T Locations: - p.Ser701Leu (Ensembl:ENST00000631073) - c.2102C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1173781867 | 702 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.79) Somatic: No Accession: NC_000009.12:g.135772867G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772867G>T Locations: - p.Ala702Ser (Ensembl:ENST00000631073) - c.2104G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99704749 | 702 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135772868C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135772868C>T Locations: - p.Ala702Val (cosmic curated:ENST00000631073) - c.2105C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV108014637 | 703 | L>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135772871T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135772871T>A Locations: - p.Leu703Gln (cosmic curated:ENST00000631073) - c.2108T>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1832854534 | 705 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772877C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772877C>T Locations: - p.Pro705Leu (Ensembl:ENST00000631073) - c.2114C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1307057150 | 705 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772876C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772876C>T Locations: - p.Pro705Ser (Ensembl:ENST00000631073) - c.2113C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53697427 | 706 | C>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135772879T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135772879T>C Locations: - p.Cys706Arg (cosmic curated:ENST00000631073) - c.2116T>C (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000658230 RCV001065733 rs756112023 | 706 | C>S | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00006 (ClinVar) Accession: NC_000009.12:g.135772880G>C Codon: TGC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772880G>C Locations: - p.Cys706Ser (Ensembl:ENST00000631073) - c.2117G>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs368450848 | 706 | C>W | Likely benign (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.457) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772881C>G Codon: TGC/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772881C>G Locations: - p.Cys706Trp (Ensembl:ENST00000631073) - c.2118C>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV53703320 | 707 | D>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135772884C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135772884C>A Locations: - p.Asp707Glu (cosmic curated:ENST00000631073) - c.2121C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1367605908 | 707 | D>H | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.48) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772882G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772882G>C Locations: - p.Asp707His (Ensembl:ENST00000631073) - c.2119G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001303412 RCV002271004 RCV002271005 RCV002318128 rs1367605908 | 707 | D>N | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000009.12:g.135772882G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772882G>A Locations: - p.Asp707Asn (Ensembl:ENST00000631073) - c.2119G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
rs1832855607 | 710 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135772892G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772892G>A Locations: - p.Ser710Asn (Ensembl:ENST00000631073) - c.2129G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53695084 RCV000706640 RCV000762595 RCV002270984 RCV002270985 rs752598622 | 711 | D>N | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135772894G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772894G>A Locations: - p.Asp711Asn (Ensembl:ENST00000631073) - c.2131G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs752598622 | 711 | D>Y | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.279) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772894G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772894G>T Locations: - p.Asp711Tyr (Ensembl:ENST00000631073) - c.2131G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA375511050 RCV000650656 RCV003148817 rs1437258889 | 712 | Q>K | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135772897C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772897C>A Locations: - p.Gln712Lys (Ensembl:ENST00000631073) - c.2134C>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53696082 rs539503566 | 712 | Q>R | Variant of uncertain significance (Ensembl) | cosmic curated 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135772898A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772898A>G Locations: - p.Gln712Arg (Ensembl:ENST00000631073) - c.2135A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001339347 rs774281111 | 713 | S>L | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135772901C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772901C>T Locations: - p.Ser713Leu (Ensembl:ENST00000631073) - c.2138C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs774281111 | 713 | S>W | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.673) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772901C>G Codon: TCG/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772901C>G Locations: - p.Ser713Trp (Ensembl:ENST00000631073) - c.2138C>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
RCV001326884 RCV003479313 rs772800657 | 714 | E>D | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.452) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.00006 (ClinVar) Accession: NC_000009.12:g.135772905G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772905G>T Locations: - p.Glu714Asp (Ensembl:ENST00000631073) - c.2142G>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV001984756 rs2131521801 | 714 | E>G | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772904A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772904A>G Locations: - p.Glu714Gly (Ensembl:ENST00000631073) - c.2141A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs771824661 | 714 | E>K | Variant of uncertain significance (Ensembl) | ExAC | |||
Consequence: missense Predictions: - PolyPhen: benign (0.123) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772903G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772903G>A Locations: - p.Glu714Lys (Ensembl:ENST00000631073) - c.2140G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001034726 RCV002271164 RCV002271165 rs1360863995 | 715 | D>G | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.194) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000009.12:g.135772907A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772907A>G Locations: - p.Asp715Gly (Ensembl:ENST00000631073) - c.2144A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1244750947 | 715 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.357) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772906G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772906G>A Locations: - p.Asp715Asn (Ensembl:ENST00000631073) - c.2143G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs895247544 | 716 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772909G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772909G>A Locations: - p.Glu716Lys (Ensembl:ENST00000631073) - c.2146G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs760064288 | 717 | V>M | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000009.12:g.135772912G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772912G>A Locations: - p.Val717Met (Ensembl:ENST00000631073) - c.2149G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA153307 COSV107221927 RCV000117362 RCV000233192 RCV002269828 RCV002269829 RCV002312159 RCV004717972 rs61744696 | 718 | T>M | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.137) - SIFT: deleterious - low confidence (0.04) Somatic: Yes Population frequencies: - MAF: 0.00579 (ClinVar) - MAF: 0.00549451 (1000Genomes) Accession: NC_000009.12:g.135772916C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772916C>T Locations: - p.Thr718Met (Ensembl:ENST00000631073) - c.2153C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study Cross-references: | |||||||
rs1191000932 | 718 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772915A>T Codon: ACG/TCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772915A>T Locations: - p.Thr718Ser (Ensembl:ENST00000631073) - c.2152A>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53706603 RCV001309358 rs760032575 | 719 | P>L | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.05) Somatic: Yes Population frequencies: - MAF: 0.00007 (ClinVar) Accession: NC_000009.12:g.135772919C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772919C>T Locations: - p.Pro719Leu (Ensembl:ENST00000631073) - c.2156C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001945780 rs1163455129 | 720 | S>L | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135772922C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772922C>T Locations: - p.Ser720Leu (Ensembl:ENST00000631073) - c.2159C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
CA5327211 RCV000546777 RCV000616774 RCV002270646 RCV002270647 RCV002311873 RCV003915607 rs148162797 | 721 | D>E | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) KCNT1-related disorder (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.21) Somatic: No Population frequencies: - MAF: 0.0006 (ClinVar) - MAF: 0.000588697 (1000Genomes) Accession: NC_000009.12:g.135772926C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772926C>G Locations: - p.Asp721Glu (Ensembl:ENST00000631073) - c.2163C>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases - KCNT1-related disorder Source type: large scale study Cross-references: | |||||||
COSV104556844 | 721 | D>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135772924G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135772924G>A Locations: - p.Asp721Asn (cosmic curated:ENST00000631073) - c.2161G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV002037443 rs756359375 | 722 | D>A | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00008 (ClinVar) Accession: NC_000009.12:g.135772928A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772928A>C Locations: - p.Asp722Ala (Ensembl:ENST00000631073) - c.2165A>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
CA201474792 RCV000557177 rs756359375 | 722 | D>G | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135772928A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772928A>G Locations: - p.Asp722Gly (Ensembl:ENST00000631073) - c.2165A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
CA5327213 RCV000650633 rs375403065 | 722 | D>N | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00008 (ClinVar) Accession: NC_000009.12:g.135772927G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772927G>A Locations: - p.Asp722Asn (Ensembl:ENST00000631073) - c.2164G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV53706134 | 723 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135772930G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135772930G>T Locations: - p.Glu723Ter (cosmic curated:ENST00000631073) - c.2167G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV002318353 rs754932579 | 723 | E>D | Inborn genetic diseases (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000009.12:g.135772932G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772932G>C Locations: - p.Glu723Asp (Ensembl:ENST00000631073) - c.2169G>C (Ensembl:ENST00000631073) Disease association: - Inborn genetic diseases Source type: large scale study Cross-references: | |||||||
COSV53708398 RCV001927845 RCV002555381 rs749302270 | 723 | E>K | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00008 (ClinVar) Accession: NC_000009.12:g.135772930G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772930G>A Locations: - p.Glu723Lys (Ensembl:ENST00000631073) - c.2167G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
rs1226834674 | 724 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772934G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772934G>A Locations: - p.Gly724Glu (Ensembl:ENST00000631073) - c.2171G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1341803750 | 724 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135772933G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772933G>A Locations: - p.Gly724Arg (Ensembl:ENST00000631073) - c.2170G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1226834674 | 724 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135772934G>T Codon: GGG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772934G>T Locations: - p.Gly724Val (Ensembl:ENST00000631073) - c.2171G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001215420 rs778897238 | 725 | L>F | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.07) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135772936C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772936C>T Locations: - p.Leu725Phe (Ensembl:ENST00000631073) - c.2173C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs778897238 | 725 | L>V | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.44) Somatic: No Accession: NC_000009.12:g.135772936C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772936C>G Locations: - p.Leu725Val (Ensembl:ENST00000631073) - c.2173C>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
CA5327219 RCV000472325 RCV001721276 RCV002270346 RCV002270347 RCV002313094 RCV003942402 rs559344618 | 727 | V>M | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) KCNT1-related disorder (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.0004 (ClinVar) - MAF: 0.000392465 (1000Genomes) Accession: NC_000009.12:g.135772942G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772942G>A Locations: - p.Val727Met (Ensembl:ENST00000631073) - c.2179G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases - KCNT1-related disorder Source type: large scale study | |||||||
rs772673008 | 728 | V>A | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000009.12:g.135772946T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135772946T>C Locations: - p.Val728Ala (Ensembl:ENST00000631073) - c.2183T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA375512093 RCV000518961 RCV001497170 rs1333549995 | 729 | E>D | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.11) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135775310G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775310G>C Locations: - p.Glu729Asp (Ensembl:ENST00000631073) - c.2187G>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001974658 rs2131534801 | 731 | V>M | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135775314G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775314G>A Locations: - p.Val731Met (Ensembl:ENST00000631073) - c.2191G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV99704845 rs780703635 | 732 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.267) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000004058 (gnomAD) Accession: NC_000009.12:g.135775319G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775319G>C Locations: - p.K732N (NCI-TCGA:ENST00000631073) - p.Lys732Asn (Ensembl:ENST00000631073) - c.2196G>C (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV53702268 rs745342758 | 734 | Y>C | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.772) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135775324A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775324A>G Locations: - p.Tyr734Cys (Ensembl:ENST00000631073) - c.2201A>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs745342758 | 734 | Y>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135775324A>C Codon: TAC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775324A>C Locations: - p.Tyr734Ser (Ensembl:ENST00000631073) - c.2201A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53703715 | 735 | P>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135775326-135775327CC>AA Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135775326-135775327CC>AA Locations: - p.Pro735Asn (cosmic curated:ENST00000631073) - c.2203_2204delinsAA (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1487574287 | 736 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.131) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135775329C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775329C>T Locations: - p.Pro736Ser (Ensembl:ENST00000631073) - c.2206C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53694983 | 737 | N>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135775334C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135775334C>A Locations: - p.Asn737Lys (cosmic curated:ENST00000631073) - c.2211C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs770294076 | 737 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135775333A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775333A>G Locations: - p.Asn737Ser (Ensembl:ENST00000631073) - c.2210A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000808463 RCV003132066 rs775923151 | 738 | S>L | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00004 (ClinVar) Accession: NC_000009.12:g.135775336C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775336C>T Locations: - p.Ser738Leu (Ensembl:ENST00000631073) - c.2213C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1321208182 | 739 | P>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.407) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135775338C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775338C>G Locations: - p.Pro739Ala (Ensembl:ENST00000631073) - c.2215C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1352728827 | 739 | P>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135775339C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775339C>G Locations: - p.Pro739Arg (Ensembl:ENST00000631073) - c.2216C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53695365 | 739 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135775338C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135775338C>T Locations: - p.Pro739Ser (cosmic curated:ENST00000631073) - c.2215C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99705260 | 740 | Y>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135775342A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135775342A>G Locations: - p.Tyr740Cys (cosmic curated:ENST00000631073) - c.2219A>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99706955 | 740 | Y>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135775341T>C Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775341T>C Locations: - p.Y740H (NCI-TCGA:ENST00000631073) - p.Tyr740His (cosmic curated:ENST00000631073) - c.2218T>C (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA16618797 RCV000485871 rs1064795013 | 741 | I>F | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.323) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135775344A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775344A>T Locations: - p.Ile741Phe (Ensembl:ENST00000631073) - c.2221A>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
VAR_069314 CA130395 RCV000032796 RCV000413294 rs370521183 | 741 | I>M | DEE14 (UniProt) Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.135775346C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775346C>G Locations: - p.Ile741Met (UniProt:Q5JUK3) - p.Ile741Met (Ensembl:ENST00000631073) - c.2223C>G (Ensembl:ENST00000631073) Disease association: - Developmental and epileptic encephalopathy 14 (DEE14) - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: mixed | |||||||
CA5327249 COSV107221957 RCV000523851 rs761987610 | 742 | G>S | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00008 (ClinVar) Accession: NC_000009.12:g.135775347G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775347G>A Locations: - p.Gly742Ser (Ensembl:ENST00000631073) - c.2224G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs202083898 | 743 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135775352C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775352C>G Locations: - p.Ser743Arg (Ensembl:ENST00000631073) - c.2229C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1588375864 | 744 | S>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.557) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135775353T>G Codon: TCC/GCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775353T>G Locations: - p.Ser744Ala (Ensembl:ENST00000631073) - c.2230T>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53710592 rs750558862 | 744 | S>F | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135775354C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775354C>T Locations: - p.Ser744Phe (Ensembl:ENST00000631073) - c.2231C>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
RCV001206044 rs1833087099 | 745 | P>L | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.811) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135775357C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775357C>T Locations: - p.Pro745Leu (Ensembl:ENST00000631073) - c.2234C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1293656335 | 745 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.42) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135775356C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775356C>T Locations: - p.Pro745Ser (Ensembl:ENST00000631073) - c.2233C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53702349 rs1588375912 | 746 | T>P | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.841) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135775359A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775359A>C Locations: - p.Thr746Pro (Ensembl:ENST00000631073) - c.2236A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1366096381 | 747 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.93) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135775363T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775363T>C Locations: - p.Leu747Pro (Ensembl:ENST00000631073) - c.2240T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs752738271 | 749 | H>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.551) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135775369A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775369A>C Locations: - p.His749Pro (Ensembl:ENST00000631073) - c.2246A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs752738271 | 749 | H>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135775369A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775369A>G Locations: - p.His749Arg (Ensembl:ENST00000631073) - c.2246A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99707141 | 749 | H>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135775368C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135775368C>T Locations: - p.His749Tyr (cosmic curated:ENST00000631073) - c.2245C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs758350255 | 750 | L>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135775372T>A Codon: CTC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775372T>A Locations: - p.Leu750His (Ensembl:ENST00000631073) - c.2249T>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs758350255 | 750 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135775372T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775372T>C Locations: - p.Leu750Pro (Ensembl:ENST00000631073) - c.2249T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1172121295 | 750 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.885) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135775371C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775371C>G Locations: - p.Leu750Val (Ensembl:ENST00000631073) - c.2248C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1833089344 | 752 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135775378C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775378C>T Locations: - p.Pro752Leu (Ensembl:ENST00000631073) - c.2255C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1833089199 | 752 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135775377C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775377C>T Locations: - p.Pro752Ser (Ensembl:ENST00000631073) - c.2254C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs777479133 | 755 | A>D | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.2) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135775387C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775387C>A Locations: - p.Ala755Asp (Ensembl:ENST00000631073) - c.2264C>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1588375985 | 755 | A>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.62) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135775386G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775386G>C Locations: - p.Ala755Pro (Ensembl:ENST00000631073) - c.2263G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5327257 RCV000465729 RCV002311773 rs777479133 | 755 | A>V | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.0001 (ClinVar) Accession: NC_000009.12:g.135775387C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775387C>T Locations: - p.Ala755Val (Ensembl:ENST00000631073) - c.2264C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
RCV001262969 rs751320619 | 756 | P>A | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0.03) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135775389C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775389C>G Locations: - p.Pro756Ala (Ensembl:ENST00000631073) - c.2266C>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 Source type: large scale study Cross-references: | |||||||
COSV104556860 | 756 | P>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135775389-135775390CC>TT Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135775389-135775390CC>TT Locations: - p.Pro756Phe (cosmic curated:ENST00000631073) - c.2266_2267delinsTT (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1588376012 | 757 | F>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.108) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135775393T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775393T>C Locations: - p.Phe757Ser (Ensembl:ENST00000631073) - c.2270T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1833088879 | 759 | C>L | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135775378_135775397dup Codon: CTGCCTGTGAAAGCCCCCTTCTGC/CTGCCTGTGAAAGCCCCCTTCTGCCTGTGAAAGCCCCCTTCTGC Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775378_135775397dup Locations: - p.Cys759LeufsTer2 (Ensembl:ENST00000631073) - c.2274_2275insCTGTGAAAGCCCCCTTCTGC (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1833091193 | 759 | C>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.782) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135775399G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775399G>A Locations: - p.Cys759Tyr (Ensembl:ENST00000631073) - c.2276G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53697768 RCV001929092 rs780759196 | 761 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001211 (gnomAD) - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135775405G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775405G>A Locations: - p.R761Q (NCI-TCGA:ENST00000631073) - p.Arg761Gln (Ensembl:ENST00000631073) - c.2282G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53697089 COSV99706367 | 761 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135775404C>T Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135775404C>T Locations: - p.R761W (NCI-TCGA:ENST00000631073) - p.Arg761Trp (cosmic curated:ENST00000631073) - c.2281C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1833239934 | 765 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135777338G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777338G>A Locations: - p.Gly765Ser (Ensembl:ENST00000631073) - c.2293G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1360670404 | 768 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00000399 (gnomAD) Accession: NC_000009.12:g.135777347C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777347C>T Locations: - p.H768Y (NCI-TCGA:ENST00000631073) - p.His768Tyr (Ensembl:ENST00000631073) - c.2302C>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV107221956 | 770 | S>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135777354G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135777354G>C Locations: - p.Ser770Thr (cosmic curated:ENST00000631073) - c.2309G>C (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99705268 | 772 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135777359G>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777359G>A Locations: - p.E772K (NCI-TCGA:ENST00000631073) - p.Glu772Lys (cosmic curated:ENST00000631073) - c.2314G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001532659 RCV003771651 rs1466772062 | 774 | A>T | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.697) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135777365G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777365G>A Locations: - p.Ala774Thr (Ensembl:ENST00000631073) - c.2320G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV001062220 rs1833240649 | 774 | A>V | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135777366C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777366C>T Locations: - p.Ala774Val (Ensembl:ENST00000631073) - c.2321C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV99706589 | 775 | K>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135777368A>G Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777368A>G Locations: - p.K775E (NCI-TCGA:ENST00000631073) - p.Lys775Glu (cosmic curated:ENST00000631073) - c.2323A>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV104375522 | 776 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135777371G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135777371G>A Locations: - p.Ala776Thr (cosmic curated:ENST00000631073) - c.2326G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
VAR_069315 CA343802 RCV000032798 RCV000813544 rs397515406 | 777 | Y>H | ENFL5 (UniProt) Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.135777374T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777374T>C Locations: - p.Tyr777His (UniProt:Q5JUK3) - p.Tyr777His (Ensembl:ENST00000631073) - c.2329T>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Epilepsy, nocturnal frontal lobe, 5 (ENFL5) Source type: mixed Cross-references: | |||||||
COSV53702751 | 777 | Y>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135777374T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135777374T>A Locations: - p.Tyr777Asn (cosmic curated:ENST00000631073) - c.2329T>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001303190 rs1233102018 | 778 | G>R | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.174) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135777377G>A, NC_000009.12:g.135777377G>C Codon: GGG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777377G>A, NC_000009.12:g.135777377G>C Locations: - p.Gly778Arg (Ensembl:ENST00000631073) - c.2332G>A (Ensembl:ENST00000631073) - c.2332G>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1393309772 | 780 | K>N | Likely benign (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.067) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135777385G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777385G>T Locations: - p.Lys780Asn (Ensembl:ENST00000631073) - c.2340G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV002007740 rs2131543567 | 785 | I>T | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.705) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135777399T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777399T>C Locations: - p.Ile785Thr (Ensembl:ENST00000631073) - c.2354T>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1207405619 | 785 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.552) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135777398A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777398A>G Locations: - p.Ile785Val (Ensembl:ENST00000631073) - c.2353A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53702854 rs376955682 | 786 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.243) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000003978 (gnomAD) Accession: NC_000009.12:g.135777401G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777401G>A Locations: - p.V786I (NCI-TCGA:ENST00000631073) - p.Val786Ile (Ensembl:ENST00000631073) - c.2356G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53699665 rs866480184 | 787 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.366) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000003978 (gnomAD) Accession: NC_000009.12:g.135777405C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777405C>T Locations: - p.S787L (NCI-TCGA:ENST00000631073) - p.Ser787Leu (Ensembl:ENST00000631073) - c.2360C>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1474998881 | 788 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.904) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135777408C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777408C>G Locations: - p.Ala788Gly (Ensembl:ENST00000631073) - c.2363C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53707669 | 788 | A>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135777407G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135777407G>T Locations: - p.Ala788Ser (cosmic curated:ENST00000631073) - c.2362G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1474998881 | 788 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.454) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135777408C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777408C>T Locations: - p.Ala788Val (Ensembl:ENST00000631073) - c.2363C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53706008 | 789 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135777410G>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777410G>A Locations: - p.E789K (NCI-TCGA:ENST00000631073) - p.Glu789Lys (cosmic curated:ENST00000631073) - c.2365G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001055682 rs753288865 | 790 | T>M | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.603) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135777414C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777414C>T Locations: - p.Thr790Met (Ensembl:ENST00000631073) - c.2369C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV53703507 | 791 | A>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135777417C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135777417C>A Locations: - p.Ala791Asp (cosmic curated:ENST00000631073) - c.2372C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53703507 COSV99705179 | 791 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135777417C>T Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777417C>T Locations: - p.A791V (NCI-TCGA:ENST00000631073) - p.Ala791Val (cosmic curated:ENST00000631073) - c.2372C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53702932 RCV001756837 RCV002540382 RCV004040193 rs748756591 | 792 | G>S | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135777419G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777419G>A Locations: - p.Gly792Ser (Ensembl:ENST00000631073) - c.2374G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
rs758942308 | 793 | N>K | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135777424T>G Codon: AAT/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777424T>G Locations: - p.Asn793Lys (Ensembl:ENST00000631073) - c.2379T>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
RCV000696824 rs1564380461 | 793 | N>S | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.124) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135777423A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777423A>G Locations: - p.Asn793Ser (Ensembl:ENST00000631073) - c.2378A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1353251151 | 794 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135777425G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777425G>A Locations: - p.Gly794Arg (Ensembl:ENST00000631073) - c.2380G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1276377762 | 795 | L>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135777429T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777429T>G Locations: - p.Leu795Arg (Ensembl:ENST00000631073) - c.2384T>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001930732 rs2131543767 | 797 | N>D | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.964) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135777434A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777434A>G Locations: - p.Asn797Asp (Ensembl:ENST00000631073) - c.2389A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001036688 rs1833245627 | 798 | F>L | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135777437T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777437T>C Locations: - p.Phe798Leu (Ensembl:ENST00000631073) - c.2392T>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001350862 RCV002447434 rs1306134073 | 799 | I>V | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.473) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135777440A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777440A>G Locations: - p.Ile799Val (Ensembl:ENST00000631073) - c.2395A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study Cross-references: | |||||||
RCV001339592 rs771284979 | 800 | V>M | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.632) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135777443G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777443G>A Locations: - p.Val800Met (Ensembl:ENST00000631073) - c.2398G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1306973135 | 801 | P>L | Likely pathogenic (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135777447C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777447C>T Locations: - p.Pro801Leu (Ensembl:ENST00000631073) - c.2402C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001204562 rs1833247008 | 803 | R>Q | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.967) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135777453G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777453G>A Locations: - p.Arg803Gln (Ensembl:ENST00000631073) - c.2408G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001253068 rs746067661 | 803 | R>W | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) | Likely benign (Ensembl) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135777452C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777452C>T Locations: - p.Arg803Trp (Ensembl:ENST00000631073) - c.2407C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 Source type: large scale study Cross-references: | |||||||
rs769984758 | 804 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.75) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135777455G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777455G>T Locations: - p.Ala804Ser (Ensembl:ENST00000631073) - c.2410G>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
RCV001200200 rs1833247433 | 804 | A>V | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135777456C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777456C>T Locations: - p.Ala804Val (Ensembl:ENST00000631073) - c.2411C>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs775405263 | 807 | R>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.945) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135777465G>C Codon: AGA/ACA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777465G>C Locations: - p.Arg807Thr (Ensembl:ENST00000631073) - c.2420G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53701968 COSV53708587 | 808 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135777468C>G Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777468C>G Locations: - p.S808C (NCI-TCGA:ENST00000631073) - p.Ser808Cys (cosmic curated:ENST00000631073) - c.2423C>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53701968 | 808 | S>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135777468C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135777468C>A Locations: - p.Ser808Tyr (cosmic curated:ENST00000631073) - c.2423C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53710822 RCV001974878 RCV002271310 RCV002271311 RCV004584453 rs370800291 | 809 | R>C | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000009.12:g.135777470C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777470C>T Locations: - p.Arg809Cys (Ensembl:ENST00000631073) - c.2425C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001751903 RCV002539913 rs747191095 | 809 | R>H | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.506) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135777471G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777471G>A Locations: - p.Arg809His (Ensembl:ENST00000631073) - c.2426G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs747191095 | 809 | R>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135777471G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777471G>T Locations: - p.Arg809Leu (Ensembl:ENST00000631073) - c.2426G>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV99705713 | 809 | R>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135777470C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135777470C>A Locations: - p.Arg809Ser (cosmic curated:ENST00000631073) - c.2425C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001769474 rs2131543999 | 810 | K>E | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135777473A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777473A>G Locations: - p.Lys810Glu (Ensembl:ENST00000631073) - c.2428A>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV99705285 | 810 | K>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135777475G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135777475G>T Locations: - p.Lys810Asn (cosmic curated:ENST00000631073) - c.2430G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1268306218 | 812 | L>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135777479C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777479C>A Locations: - p.Leu812Met (Ensembl:ENST00000631073) - c.2434C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1268306218 | 812 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.723) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135777479C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777479C>G Locations: - p.Leu812Val (Ensembl:ENST00000631073) - c.2434C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs773018660 | 813 | N>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135777484C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777484C>A Locations: - p.Asn813Lys (Ensembl:ENST00000631073) - c.2439C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1173454349 | 813 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135777483A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777483A>G Locations: - p.Asn813Ser (Ensembl:ENST00000631073) - c.2438A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1472476683 | 814 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.967) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135777485C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777485C>T Locations: - p.Pro814Ser (Ensembl:ENST00000631073) - c.2440C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001366083 rs1476079719 | 815 | I>V | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135777488A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777488A>G Locations: - p.Ile815Val (Ensembl:ENST00000631073) - c.2443A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV104556744 | 816 | V>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135777492T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135777492T>A Locations: - p.Val816Glu (cosmic curated:ENST00000631073) - c.2447T>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53705835 RCV000689382 rs753584318 | 816 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000004005 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135777491G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777491G>A Locations: - p.V816M (NCI-TCGA:ENST00000631073) - p.Val816Met (Ensembl:ENST00000631073) - c.2446G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53706691 | 817 | L>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135777494C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135777494C>A Locations: - p.Leu817Met (cosmic curated:ENST00000631073) - c.2449C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1160732928 | 820 | D>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.711) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135777503G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135777503G>T Locations: - p.Asp820Tyr (Ensembl:ENST00000631073) - c.2458G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53696578 | 821 | N>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135777508C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135777508C>A Locations: - p.Asn821Lys (cosmic curated:ENST00000631073) - c.2463C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99706937 | 822 | K>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135777510A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135777510A>C Locations: - p.Lys822Thr (cosmic curated:ENST00000631073) - c.2465A>C (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1358334317 | 824 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.43) Somatic: No Accession: NC_000009.12:g.135778430C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778430C>G Locations: - p.Asp824Glu (Ensembl:ENST00000631073) - c.2472C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA16612549 RCV000471699 rs376758763 | 824 | D>H | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl) | ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135778428G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778428G>C Locations: - p.Asp824His (Ensembl:ENST00000631073) - c.2470G>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53713445 RCV001034062 RCV001574615 RCV004030925 rs376758763 | 824 | D>N | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.0001 (ClinVar) Accession: NC_000009.12:g.135778428G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778428G>A Locations: - p.Asp824Asn (Ensembl:ENST00000631073) - c.2470G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
RCV001823633 rs1833337197 | 825 | H>L | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778432A>T Codon: CAC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778432A>T Locations: - p.His825Leu (Ensembl:ENST00000631073) - c.2474A>T (Ensembl:ENST00000631073) Disease association: - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1833337197 | 825 | H>R | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135778432A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778432A>G Locations: - p.His825Arg (Ensembl:ENST00000631073) - c.2474A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1206329448 | 825 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778431C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778431C>T Locations: - p.His825Tyr (Ensembl:ENST00000631073) - c.2473C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs11791754 | 828 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778440C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778440C>G Locations: - p.Leu828Val (Ensembl:ENST00000631073) - c.2482C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA201902 RCV000176324 RCV000427452 RCV000988291 RCV001084423 RCV002269830 RCV002312161 rs149804567 | 829 | E>G | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.142) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.0012 (ClinVar) - MAF: 0.00117739 (1000Genomes) Accession: NC_000009.12:g.135778444A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778444A>G Locations: - p.Glu829Gly (Ensembl:ENST00000631073) - c.2486A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study Cross-references: | |||||||
rs1254342881 | 832 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.645) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778452T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778452T>C Locations: - p.Cys832Arg (Ensembl:ENST00000631073) - c.2494T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001047785 rs1474100198 | 833 | C>F | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.152) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135778456G>T Codon: TGC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778456G>T Locations: - p.Cys833Phe (Ensembl:ENST00000631073) - c.2498G>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1419725743 | 835 | P>L | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778462C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778462C>T Locations: - p.Pro835Leu (Ensembl:ENST00000631073) - c.2504C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV107221897 | 835 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135778461C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135778461C>T Locations: - p.Pro835Ser (cosmic curated:ENST00000631073) - c.2503C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1833339289 | 836 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778466G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778466G>T Locations: - p.Met836Ile (Ensembl:ENST00000631073) - c.2508G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs762496807 | 836 | M>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001229 (gnomAD) Accession: NC_000009.12:g.135778464A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778464A>G Locations: - p.M836V (NCI-TCGA:ENST00000631073) - p.Met836Val (Ensembl:ENST00000631073) - c.2506A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1247082735 | 839 | Y>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.772) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778473T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778473T>C Locations: - p.Tyr839His (Ensembl:ENST00000631073) - c.2515T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs578161648 | 843 | S>A | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.134) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000009.12:g.135778485T>G Codon: TCT/GCT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778485T>G Locations: - p.Ser843Ala (Ensembl:ENST00000631073) - c.2527T>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000702248 rs1564381972 | 843 | S>C | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135778486C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778486C>G Locations: - p.Ser843Cys (Ensembl:ENST00000631073) - c.2528C>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1833340545 | 845 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135778491G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778491G>A Locations: - p.Asp845Asn (Ensembl:ENST00000631073) - c.2533G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs757223440 | 848 | D>A | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.799) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778693A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778693A>C Locations: - p.Asp848Ala (Ensembl:ENST00000631073) - c.2543A>C (Ensembl:ENST00000631073) Source type: large scale study | |||||||
RCV001220958 rs757223440 | 848 | D>G | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.41) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135778693A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778693A>G Locations: - p.Asp848Gly (Ensembl:ENST00000631073) - c.2543A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV001946474 rs1424894748 | 848 | D>N | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.885) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135778692G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778692G>A Locations: - p.Asp848Asn (Ensembl:ENST00000631073) - c.2542G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV104556891 | 848 | D>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135778692G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135778692G>T Locations: - p.Asp848Tyr (cosmic curated:ENST00000631073) - c.2542G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53712004 | 849 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135778696G>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778696G>A Locations: - p.S849N (NCI-TCGA:ENST00000631073) - p.Ser849Asn (cosmic curated:ENST00000631073) - c.2546G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99705825 | 849 | S>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135778697C>G Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778697C>G Locations: - p.S849R (NCI-TCGA:ENST00000631073) - p.Ser849Arg (cosmic curated:ENST00000631073) - c.2547C>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000728590 rs1564382343 | 850 | L>V | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.532) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778698C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778698C>G Locations: - p.Leu850Val (Ensembl:ENST00000631073) - c.2548C>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1415210141 | 851 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.697) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778702T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778702T>C Locations: - p.Leu851Pro (Ensembl:ENST00000631073) - c.2552T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs769546006 | 853 | C>Y | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.407) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778708G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778708G>A Locations: - p.Cys853Tyr (Ensembl:ENST00000631073) - c.2558G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV106394589 | 854 | G>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135778710G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135778710G>T Locations: - p.Gly854Cys (cosmic curated:ENST00000631073) - c.2560G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs775397386 | 854 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778710G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778710G>A Locations: - p.Gly854Ser (Ensembl:ENST00000631073) - c.2560G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs768378336 | 855 | I>V | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000009.12:g.135778713A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778713A>G Locations: - p.Ile855Val (Ensembl:ENST00000631073) - c.2563A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1833361661 | 856 | I>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778717T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778717T>A Locations: - p.Ile856Asn (Ensembl:ENST00000631073) - c.2567T>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs774033346 | 858 | A>G | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.87) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778723C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778723C>G Locations: - p.Ala858Gly (Ensembl:ENST00000631073) - c.2573C>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV104556813 RCV001973154 rs774033346 | 858 | A>V | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135778723C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778723C>T Locations: - p.Ala858Val (Ensembl:ENST00000631073) - c.2573C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV99707070 | 859 | D>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135778727C>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778727C>A Locations: - p.D859E (NCI-TCGA:ENST00000631073) - p.Asp859Glu (cosmic curated:ENST00000631073) - c.2577C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53700662 | 859 | D>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135778725G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135778725G>A Locations: - p.Asp859Asn (cosmic curated:ENST00000631073) - c.2575G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99706889 | 860 | N>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135778729A>T Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778729A>T Locations: - p.N860I (NCI-TCGA:ENST00000631073) - p.Asn860Ile (cosmic curated:ENST00000631073) - c.2579A>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV104556896 | 860 | N>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135778729A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135778729A>G Locations: - p.Asn860Ser (cosmic curated:ENST00000631073) - c.2579A>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000728596 rs1564382426 | 862 | V>L | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.163) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778734G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778734G>T Locations: - p.Val862Leu (Ensembl:ENST00000631073) - c.2584G>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1377584703 | 863 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.675) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778738T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778738T>C Locations: - p.Val863Ala (Ensembl:ENST00000631073) - c.2588T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1377584703 | 863 | V>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.84) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778738T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778738T>G Locations: - p.Val863Gly (Ensembl:ENST00000631073) - c.2588T>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs761236942 | 864 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135778741T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778741T>C Locations: - p.Val864Ala (Ensembl:ENST00000631073) - c.2591T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1833362993 | 865 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778743G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778743G>A Locations: - p.Asp865Asn (Ensembl:ENST00000631073) - c.2593G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA16618798 RCV000480787 RCV001044330 RCV002270572 RCV002270573 rs974652934 | 866 | K>E | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135778746A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778746A>G Locations: - p.Lys866Glu (Ensembl:ENST00000631073) - c.2596A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53709490 | 867 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135778749G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135778749G>A Locations: - p.Glu867Lys (cosmic curated:ENST00000631073) - c.2599G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1397914215 | 868 | S>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.262) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778753G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778753G>C Locations: - p.Ser868Thr (Ensembl:ENST00000631073) - c.2603G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1588385033 | 869 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.626) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778755A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778755A>C Locations: - p.Thr869Pro (Ensembl:ENST00000631073) - c.2605A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1833363879 | 870 | M>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.086) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778758A>C Codon: ATG/CTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778758A>C Locations: - p.Met870Leu (Ensembl:ENST00000631073) - c.2608A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs755213812 | 871 | S>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778762G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778762G>T Locations: - p.Ser871Ile (Ensembl:ENST00000631073) - c.2612G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99706723 RCV001923599 rs752835491 | 872 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001195 (gnomAD) - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135778764G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778764G>A Locations: - p.A872T (NCI-TCGA:ENST00000631073) - p.Ala872Thr (Ensembl:ENST00000631073) - c.2614G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
CA5327387 RCV000650625 RCV001698287 RCV003409605 rs376757326 | 873 | E>K | KCNT1-related disorder (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious - low confidence (0.03) Somatic: No Population frequencies: - MAF: 0.00008 (ClinVar) Accession: NC_000009.12:g.135778767G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778767G>A Locations: - p.Glu873Lys (Ensembl:ENST00000631073) - c.2617G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - KCNT1-related disorder Source type: large scale study | |||||||
CA375514619 COSV53712024 RCV000498738 RCV004023331 rs1554778082 | 874 | E>K | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.948) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135778770G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778770G>A Locations: - p.Glu874Lys (Ensembl:ENST00000631073) - c.2620G>A (Ensembl:ENST00000631073) Disease association: - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53708140 | 875 | D>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135778775C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135778775C>A Locations: - p.Asp875Glu (cosmic curated:ENST00000631073) - c.2625C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs750369758 | 875 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.92) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778773G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778773G>A Locations: - p.Asp875Asn (Ensembl:ENST00000631073) - c.2623G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
VAR_069316 CA347129 RCV000192060 rs797044544 CA16605455 RCV000425537 | 877 | M>I | ENFL5 (UniProt) Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) | Pathogenic (Ensembl, ClinVar) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.292) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778781G>A, NC_000009.12:g.135778781G>C Codon: ATG/ATA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778781G>A, NC_000009.12:g.135778781G>C Locations: - p.Met877Ile (Ensembl:ENST00000631073) - c.2631G>A (Ensembl:ENST00000631073) - p.Met877Ile (UniProt:Q5JUK3) - c.2631G>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Epilepsy, nocturnal frontal lobe, 5 (ENFL5) Source type: mixed | |||||||
RCV001953798 RCV002246622 rs1060503696 | 877 | M>K | Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.718) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778780T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778780T>A Locations: - p.Met877Lys (Ensembl:ENST00000631073) - c.2630T>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
CA16612550 RCV000460553 rs1060503696 | 877 | M>R | Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.793) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778780T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778780T>G Locations: - p.Met877Arg (Ensembl:ENST00000631073) - c.2630T>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1060503696 | 877 | M>T | Pathogenic (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.142) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778780T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778780T>C Locations: - p.Met877Thr (Ensembl:ENST00000631073) - c.2630T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV104556718 | 878 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135778782G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135778782G>A Locations: - p.Ala878Thr (cosmic curated:ENST00000631073) - c.2632G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53701585 rs780021080 | 878 | A>V | Variant of uncertain significance (Ensembl) | cosmic curated ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135778783C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778783C>T Locations: - p.Ala878Val (Ensembl:ENST00000631073) - c.2633C>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs369904278 | 879 | D>E | Likely benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778787C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778787C>A Locations: - p.Asp879Glu (Ensembl:ENST00000631073) - c.2637C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1564382571 | 879 | D>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778785G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778785G>T Locations: - p.Asp879Tyr (Ensembl:ENST00000631073) - c.2635G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5327393 COSV53702134 RCV000467773 rs778647834 | 880 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000003985 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135778788G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778788G>A Locations: - p.A880T (NCI-TCGA:ENST00000631073) - p.Ala880Thr (Ensembl:ENST00000631073) - c.2638G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs771545870 | 884 | V>D | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.551) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778801T>A Codon: GTC/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778801T>A Locations: - p.Val884Asp (Ensembl:ENST00000631073) - c.2651T>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV53710128 rs372824034 | 884 | V>I | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.335) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135778800G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778800G>A Locations: - p.Val884Ile (Ensembl:ENST00000631073) - c.2650G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53695677 | 885 | N>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135778803A>G Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778803A>G Locations: - p.N885D (NCI-TCGA:ENST00000631073) - p.Asn885Asp (cosmic curated:ENST00000631073) - c.2653A>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53697628 RCV002025792 rs761134824 | 886 | V>M | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.791) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135778806G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778806G>A Locations: - p.Val886Met (Ensembl:ENST00000631073) - c.2656G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53704415 | 887 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135778809C>T Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778809C>T Locations: - p.Q887* (NCI-TCGA:ENST00000631073) - p.Gln887Ter (cosmic curated:ENST00000631073) - c.2659C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000812238 RCV002281580 rs1588385233 | 887 | Q>R | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.347) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778810A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778810A>G Locations: - p.Gln887Arg (Ensembl:ENST00000631073) - c.2660A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs151272083 | 891 | R>L | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.651) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135778822G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778822G>T Locations: - p.Arg891Leu (Ensembl:ENST00000631073) - c.2672G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA354199 RCV000209930 RCV000355238 RCV000712126 RCV001080368 RCV002270025 RCV002315641 RCV003927889 rs151272083 | 891 | R>Q | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) KCNT1-related disorder (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.945) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.0008 (ClinVar) Accession: NC_000009.12:g.135778822G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778822G>A Locations: - p.Arg891Gln (Ensembl:ENST00000631073) - c.2672G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases - KCNT1-related disorder Source type: large scale study Cross-references: | |||||||
COSV53707370 RCV001306626 RCV001329808 RCV002271213 rs1249219901 | 891 | R>W | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000007989 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135778821C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135778821C>T Locations: - p.R891W (NCI-TCGA:ENST00000631073) - p.Arg891Trp (Ensembl:ENST00000631073) - c.2671C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1833433773 | 893 | F>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135779364T>G Codon: TTC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779364T>G Locations: - p.Phe893Cys (Ensembl:ENST00000631073) - c.2678T>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53709224 | 897 | S>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135779376G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135779376G>T Locations: - p.Ser897Ile (cosmic curated:ENST00000631073) - c.2690G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001887880 rs2131552837 | 898 | I>V | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.192) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135779378A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779378A>G Locations: - p.Ile898Val (Ensembl:ENST00000631073) - c.2692A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53710912 | 900 | T>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135779385C>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779385C>A Locations: - p.T900K (NCI-TCGA:ENST00000631073) - p.Thr900Lys (cosmic curated:ENST00000631073) - c.2699C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53710912 rs1213818774 | 900 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.917) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135779385C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779385C>T Locations: - p.T900M (NCI-TCGA:ENST00000631073) - p.Thr900Met (Ensembl:ENST00000631073) - c.2699C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53700489 rs866560094 | 901 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.835) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135779387G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779387G>A Locations: - p.E901K (NCI-TCGA:ENST00000631073) - p.Glu901Lys (Ensembl:ENST00000631073) - c.2701G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV53697032 | 905 | P>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135779400C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135779400C>A Locations: - p.Pro905His (cosmic curated:ENST00000631073) - c.2714C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53697012 | 905 | P>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135779399C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135779399C>A Locations: - p.Pro905Thr (cosmic curated:ENST00000631073) - c.2713C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs771944935 | 908 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.42) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135779410G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779410G>A Locations: - p.Met908Ile (Ensembl:ENST00000631073) - c.2724G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1486195544 RCV001234984 | 908 | M>L | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl) | gnomAD ClinVar dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.229) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135779408A>C, NC_000009.12:g.135779408A>T Codon: ATG/CTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779408A>C, NC_000009.12:g.135779408A>T Locations: - p.Met908Leu (Ensembl:ENST00000631073) - c.2722A>C (Ensembl:ENST00000631073) - c.2722A>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs898473286 | 908 | M>T | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.668) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135779409T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779409T>C Locations: - p.Met908Thr (Ensembl:ENST00000631073) - c.2723T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1486195544 | 908 | M>V | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.651) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135779408A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779408A>G Locations: - p.Met908Val (Ensembl:ENST00000631073) - c.2722A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
VAR_069317 CA343800 CM129817 COSV53700743 RCV000032797 RCV001044165 RCV001091224 RCV002247410 RCV004577943 rs397515405 | 909 | R>C | ENFL5 (UniProt) Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt, NCI-TCGA) | UniProt ClinGen NCI-TCGA NCI-TCGA Cosmic cosmic curated ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000007958 (gnomAD) - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135779411C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779411C>T Locations: - p.R909C (NCI-TCGA:ENST00000631073) - p.Arg909Cys (UniProt:Q5JUK3) - p.Arg909Cys (Ensembl:ENST00000631073) - c.2725C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Epilepsy, nocturnal frontal lobe, 5 (ENFL5) Source type: mixed Cross-references: - NCI-TCGA: CM129817 | |||||||
COSV53695576 rs1320766215 | 909 | R>H | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135779412G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779412G>A Locations: - p.Arg909His (Ensembl:ENST00000631073) - c.2726G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1004527664 | 910 | F>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135779414T>A Codon: TTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779414T>A Locations: - p.Phe910Ile (Ensembl:ENST00000631073) - c.2728T>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53712317 | 911 | M>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135779417A>G Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779417A>G Locations: - p.M911V (NCI-TCGA:ENST00000631073) - p.Met911Val (cosmic curated:ENST00000631073) - c.2731A>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53696648 | 912 | Q>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135779421A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135779421A>T Locations: - p.Gln912Leu (cosmic curated:ENST00000631073) - c.2735A>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53696648 COSV99705085 | 912 | Q>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135779421A>G Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779421A>G Locations: - p.Q912R (NCI-TCGA:ENST00000631073) - p.Gln912Arg (cosmic curated:ENST00000631073) - c.2735A>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA10602382 RCV000077799 RCV000650650 rs886044717 | 913 | F>I | Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.94) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135779423T>A Codon: TTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779423T>A Locations: - p.Phe913Ile (Ensembl:ENST00000631073) - c.2737T>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV000680017 rs1564383774 | 913 | F>S | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.89) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135779424T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779424T>C Locations: - p.Phe913Ser (Ensembl:ENST00000631073) - c.2738T>C (Ensembl:ENST00000631073) Disease association: - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
CA5327450 COSV53699871 RCV000650639 RCV003133461 rs150395210 | 914 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl) | ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.768) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.0000199 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135779426C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779426C>T Locations: - p.R914C (NCI-TCGA:ENST00000631073) - p.Arg914Cys (Ensembl:ENST00000631073) - c.2740C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001953800 rs150395210 | 914 | R>G | Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.143) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135779426C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779426C>G Locations: - p.Arg914Gly (Ensembl:ENST00000631073) - c.2740C>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV53698351 RCV000999286 RCV001343760 RCV001730748 rs1023136319 | 914 | R>H | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely pathogenic (Ensembl, ClinVar, NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ClinVar TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.625) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135779427G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779427G>A Locations: - p.R914H (NCI-TCGA:ENST00000631073) - p.Arg914His (Ensembl:ENST00000631073) - c.2741G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
CM129794 COSV53703025 COSV99706966 RCV002036798 RCV002280205 rs397515403 | 915 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl, ClinVar) | NCI-TCGA NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.098) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135779429G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779429G>T Locations: - p.A915S (NCI-TCGA:ENST00000631073) - p.Ala915Ser (Ensembl:ENST00000631073) - c.2743G>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: - NCI-TCGA: CM129794 | |||||||
VAR_069318 CA130391 CM129794 COSV53703025 COSV99706966 RCV000032794 RCV000494477 RCV000791441 rs397515403 | 915 | A>T | DEE14; gain-of-function mutation (UniProt) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt, NCI-TCGA) | UniProt ClinGen NCI-TCGA NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135779429G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779429G>A Locations: - p.A915T (NCI-TCGA:ENST00000631073) - p.Ala915Thr (UniProt:Q5JUK3) - p.Ala915Thr (Ensembl:ENST00000631073) - c.2743G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy 14 (DEE14) - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: mixed Cross-references: - NCI-TCGA: CM129794 | |||||||
RCV001927512 rs1414528567 | 916 | K>R | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135779433A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779433A>G Locations: - p.Lys916Arg (Ensembl:ENST00000631073) - c.2747A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53699304 | 917 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135779435G>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779435G>A Locations: - p.D917N (NCI-TCGA:ENST00000631073) - p.Asp917Asn (cosmic curated:ENST00000631073) - c.2749G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA375515682 RCV000499686 RCV001401793 RCV002291651 rs1554778379 | 918 | S>G | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135779438A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779438A>G Locations: - p.Ser918Gly (Ensembl:ENST00000631073) - c.2752A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV002274346 rs2131553093 | 919 | Y>C | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135779442A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779442A>G Locations: - p.Tyr919Cys (Ensembl:ENST00000631073) - c.2756A>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
RCV001314618 rs1833441002 | 919 | Y>N | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.123) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135779441T>A Codon: TAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779441T>A Locations: - p.Tyr919Asn (Ensembl:ENST00000631073) - c.2755T>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1833441658 | 921 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.121) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135779447C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779447C>G Locations: - p.Leu921Val (Ensembl:ENST00000631073) - c.2761C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1362713626 | 922 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.444) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135779451C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779451C>G Locations: - p.Ala922Gly (Ensembl:ENST00000631073) - c.2765C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1833441904 | 922 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.142) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135779450G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779450G>T Locations: - p.Ala922Ser (Ensembl:ENST00000631073) - c.2764G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53695829 | 922 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135779450G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135779450G>A Locations: - p.Ala922Thr (cosmic curated:ENST00000631073) - c.2764G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs773401972 | 923 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135779454T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779454T>C Locations: - p.Leu923Pro (Ensembl:ENST00000631073) - c.2768T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001905886 rs1833442352 | 923 | L>V | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.651) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135779453C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779453C>G Locations: - p.Leu923Val (Ensembl:ENST00000631073) - c.2767C>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53702517 RCV001294602 rs1833442719 | 924 | S>F | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135779457C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779457C>T Locations: - p.Ser924Phe (Ensembl:ENST00000631073) - c.2771C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV53706094 | 925 | K>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135779459A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135779459A>G Locations: - p.Lys925Glu (cosmic curated:ENST00000631073) - c.2773A>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1196179092 | 925 | K>Q | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.718) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135779459A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779459A>C Locations: - p.Lys925Gln (Ensembl:ENST00000631073) - c.2773A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
VAR_078215 CA16044324 RCV000416995 rs1057519544 | 928 | K>E | DEE14 (UniProt) Malignant migrating partial seizures of infancy (ClinVar) | Pathogenic (UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.135779468A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135779468A>G Locations: - p.Lys928Glu (UniProt:Q5JUK3) - p.Lys928Glu (Ensembl:ENST00000631073) - c.2782A>G (Ensembl:ENST00000631073) Disease association: - Developmental and epileptic encephalopathy 14 (DEE14) - Malignant migrating partial seizures of infancy Source type: mixed Cross-references: | |||||||
rs755704046 | 929 | R>K | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.5) Somatic: No Accession: NC_000009.12:g.135784025G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784025G>A Locations: - p.Arg929Lys (Ensembl:ENST00000631073) - c.2786G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001967741 TCGA novel rs755704046 | 929 | R>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar NCI-TCGA ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135784025G>C Codon: AGG/ACG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784025G>C Locations: - p.R929T (NCI-TCGA:ENST00000631073) - p.Arg929Thr (Ensembl:ENST00000631073) - c.2786G>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
CA375517256 COSV99036667 RCV000528016 rs1276883403 | 931 | R>* | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135784030C>T Codon: CGA/TGA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784030C>T Locations: - p.Arg931Ter (Ensembl:ENST00000631073) - c.2791C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
CA375517259 RCV000538183 rs886043455 | 931 | R>L | Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.793) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784031G>T Codon: CGA/CTA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784031G>T Locations: - p.Arg931Leu (Ensembl:ENST00000631073) - c.2792G>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs886043455 | 931 | R>Q | Pathogenic (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.802) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784031G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784031G>A Locations: - p.Arg931Gln (Ensembl:ENST00000631073) - c.2792G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs558475462 | 934 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.915) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784040G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784040G>A Locations: - p.Gly934Asp (Ensembl:ENST00000631073) - c.2801G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53702640 rs755420667 | 936 | N>H | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135784045A>C Codon: AAC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784045A>C Locations: - p.Asn936His (Ensembl:ENST00000631073) - c.2806A>C (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV53707344 | 936 | N>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135784046A>G Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784046A>G Locations: - p.N936S (NCI-TCGA:ENST00000631073) - p.Asn936Ser (cosmic curated:ENST00000631073) - c.2807A>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53714204 | 938 | A>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135784052C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135784052C>A Locations: - p.Ala938Asp (cosmic curated:ENST00000631073) - c.2813C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000703343 RCV001815375 RCV002270976 RCV002270977 rs1277322108 | 938 | A>S | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135784051G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784051G>T Locations: - p.Ala938Ser (Ensembl:ENST00000631073) - c.2812G>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53701100 | 939 | F>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135784055T>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784055T>A Locations: - p.F939Y (NCI-TCGA:ENST00000631073) - p.Phe939Tyr (cosmic curated:ENST00000631073) - c.2816T>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs779444423 | 940 | M>I | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784059G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784059G>T Locations: - p.Met940Ile (Ensembl:ENST00000631073) - c.2820G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA375517397 RCV000516877 RCV001223475 RCV002270615 RCV002270616 rs1318262895 | 940 | M>T | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135784058T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784058T>C Locations: - p.Met940Thr (Ensembl:ENST00000631073) - c.2819T>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV99706108 | 941 | F>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135784060T>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784060T>A Locations: - p.F941I (NCI-TCGA:ENST00000631073) - p.Phe941Ile (cosmic curated:ENST00000631073) - c.2821T>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1271139059 | 941 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.727) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784062C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784062C>G Locations: - p.Phe941Leu (Ensembl:ENST00000631073) - c.2823C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs748486101 | 941 | F>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784061T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784061T>C Locations: - p.Phe941Ser (Ensembl:ENST00000631073) - c.2822T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV002277705 RCV003774890 rs1178947201 | 942 | R>C | Neurodevelopmental disorder (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135784063C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784063C>T Locations: - p.Arg942Cys (Ensembl:ENST00000631073) - c.2824C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Neurodevelopmental disorder Source type: large scale study Cross-references: | |||||||
CA231208 RCV000117366 RCV000416953 RCV001061890 RCV002256047 RCV002433609 RCV003338416 rs200694691 | 942 | R>H | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Focal epilepsy (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.189) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784064G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784064G>A Locations: - p.R942H (NCI-TCGA:ENST00000631073) - p.Arg942His (Ensembl:ENST00000631073) - c.2825G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Focal epilepsy - Inborn genetic diseases Source type: large scale study | |||||||
rs200694691 | 942 | R>P | Pathogenic (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.83) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784064G>C Codon: CGC/CCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784064G>C Locations: - p.Arg942Pro (Ensembl:ENST00000631073) - c.2825G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001895573 rs2131571194 | 944 | P>A | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.312) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784069C>G Codon: CCG/GCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784069C>G Locations: - p.Pro944Ala (Ensembl:ENST00000631073) - c.2830C>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV000796588 rs997774104 | 944 | P>L | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.852) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784070C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784070C>T Locations: - p.Pro944Leu (Ensembl:ENST00000631073) - c.2831C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs997774104 | 944 | P>R | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.802) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784070C>G Codon: CCG/CGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784070C>G Locations: - p.Pro944Arg (Ensembl:ENST00000631073) - c.2831C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
VAR_078685 rs1424788778 | 947 | A>T | DEE14; variant homologue in rat has increased channel activity upon positive potentials (UniProt) | Pathogenic (Ensembl, UniProt) | UniProt dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000009.12:g.135784078G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784078G>A Locations: - p.Ala947Thr (UniProt:Q5JUK3) - p.Ala947Thr (Ensembl:ENST00000631073) - c.2839G>A (Ensembl:ENST00000631073) Disease association: - Developmental and epileptic encephalopathy 14 (DEE14) Source type: mixed | |||||||
rs1478985208 | 947 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.351) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784079C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784079C>T Locations: - p.Ala947Val (Ensembl:ENST00000631073) - c.2840C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001219909 rs139397246 | 948 | G>S | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.907) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135784081G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784081G>A Locations: - p.Gly948Ser (Ensembl:ENST00000631073) - c.2842G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs201987364 | 949 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.696) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001634 (gnomAD) Accession: NC_000009.12:g.135784084C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784084C>T Locations: - p.R949C (NCI-TCGA:ENST00000631073) - p.Arg949Cys (Ensembl:ENST00000631073) - c.2845C>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
CA375517503 RCV000650637 RCV002440357 rs1325608473 | 949 | R>H | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135784085G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784085G>A Locations: - p.Arg949His (Ensembl:ENST00000631073) - c.2846G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
RCV002004835 rs1325608473 | 949 | R>L | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.155) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784085G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784085G>T Locations: - p.Arg949Leu (Ensembl:ENST00000631073) - c.2846G>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV001947731 RCV003331232 rs1216283172 | 950 | V>I | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.421) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135784087G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784087G>A Locations: - p.Val950Ile (Ensembl:ENST00000631073) - c.2848G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1224877837 | 951 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.503) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784090T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784090T>C Locations: - p.Phe951Leu (Ensembl:ENST00000631073) - c.2851T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1279003717 | 952 | S>N | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.83) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784094G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784094G>A Locations: - p.Ser952Asn (Ensembl:ENST00000631073) - c.2855G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001372699 rs1279003717 | 952 | S>T | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.663) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784094G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784094G>C Locations: - p.Ser952Thr (Ensembl:ENST00000631073) - c.2855G>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1259390434 | 953 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784096A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784096A>G Locations: - p.Ile953Val (Ensembl:ENST00000631073) - c.2857A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53711658 | 954 | S>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135784099A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135784099A>G Locations: - p.Ser954Gly (cosmic curated:ENST00000631073) - c.2860A>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53713388 | 954 | S>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135784100G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135784100G>C Locations: - p.Ser954Thr (cosmic curated:ENST00000631073) - c.2861G>C (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53710017 rs995203432 | 955 | M>L | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135784102A>T, NC_000009.12:g.135784102A>C Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784102A>T, NC_000009.12:g.135784102A>C Locations: - p.Met955Leu (cosmic curated:ENST00000631073) - c.2863A>T (cosmic curated:ENST00000631073) - p.Met955Leu (Ensembl:ENST00000631073) - c.2863A>C (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1833831475 | 955 | M>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.778) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784103T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784103T>C Locations: - p.Met955Thr (Ensembl:ENST00000631073) - c.2864T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs995203432 | 955 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.517) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784102A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784102A>G Locations: - p.Met955Val (Ensembl:ENST00000631073) - c.2863A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1833831787 | 956 | L>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135784106T>A Codon: TTG/TAG Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784106T>A Locations: - p.Leu956Ter (Ensembl:ENST00000631073) - c.2867T>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs750160947 | 956 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.333) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784105T>G Codon: TTG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784105T>G Locations: - p.Leu956Val (Ensembl:ENST00000631073) - c.2866T>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs2131571591 | 957 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.889) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784110C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784110C>A Locations: - p.Asp957Glu (Ensembl:ENST00000631073) - c.2871C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1291419894 | 958 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.41) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135784111A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784111A>G Locations: - p.Thr958Ala (Ensembl:ENST00000631073) - c.2872A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99705147 | 958 | T>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135784112C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135784112C>T Locations: - p.Thr958Ile (cosmic curated:ENST00000631073) - c.2873C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs753241465 | 959 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.93) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784114C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784114C>G Locations: - p.Leu959Val (Ensembl:ENST00000631073) - c.2875C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99706071 | 960 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135784117C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135784117C>T Locations: - p.Leu960Phe (cosmic curated:ENST00000631073) - c.2878C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53703253 | 962 | Q>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135784123C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135784123C>T Locations: - p.Gln962Ter (cosmic curated:ENST00000631073) - c.2884C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs755542978 | 962 | Q>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784123C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784123C>G Locations: - p.Gln962Glu (Ensembl:ENST00000631073) - c.2884C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1454666510 | 962 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784124A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784124A>G Locations: - p.Gln962Arg (Ensembl:ENST00000631073) - c.2885A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1057523641 | 963 | S>A | Likely pathogenic (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784535T>G Codon: TCC/GCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784535T>G Locations: - p.Ser963Ala (Ensembl:ENST00000631073) - c.2887T>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1475185094 | 963 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.858) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784536C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784536C>T Locations: - p.Ser963Phe (Ensembl:ENST00000631073) - c.2888C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA16605458 RCV000443900 rs1057523641 | 963 | S>P | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.765) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784535T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784535T>C Locations: - p.Ser963Pro (Ensembl:ENST00000631073) - c.2887T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1465054757 | 965 | V>L | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.885) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784541G>T, NC_000009.12:g.135784541G>C Codon: GTG/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784541G>T, NC_000009.12:g.135784541G>C Locations: - p.Val965Leu (Ensembl:ENST00000631073) - c.2893G>T (Ensembl:ENST00000631073) - c.2893G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000794569 rs1465054757 | 965 | V>M | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135784541G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784541G>A Locations: - p.Val965Met (Ensembl:ENST00000631073) - c.2893G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV001221287 rs1833883179 | 966 | K>N | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784546G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784546G>C Locations: - p.Lys966Asn (Ensembl:ENST00000631073) - c.2898G>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs2131574362 | 968 | Y>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784550T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784550T>C Locations: - p.Tyr968His (Ensembl:ENST00000631073) - c.2902T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53701839 | 968 | Y>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135784550T>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784550T>A Locations: - p.Y968N (NCI-TCGA:ENST00000631073) - p.Tyr968Asn (cosmic curated:ENST00000631073) - c.2902T>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53702627 | 969 | M>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135784554T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135784554T>A Locations: - p.Met969Lys (cosmic curated:ENST00000631073) - c.2906T>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs751828857 | 969 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.113) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135784553A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784553A>G Locations: - p.Met969Val (Ensembl:ENST00000631073) - c.2905A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001303947 rs1833884066 | 971 | T>A | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000009.12:g.135784559A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784559A>G Locations: - p.Thr971Ala (Ensembl:ENST00000631073) - c.2911A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001923042 rs757503542 | 972 | I>V | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.47) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135784562A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784562A>G Locations: - p.Ile972Val (Ensembl:ENST00000631073) - c.2914A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV002034409 rs1032036573 | 973 | T>I | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135784566C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784566C>T Locations: - p.Thr973Ile (Ensembl:ENST00000631073) - c.2918C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53714237 RCV001065005 rs1833885872 | 974 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135784569G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784569G>A Locations: - p.R974Q (NCI-TCGA:ENST00000631073) - p.Arg974Gln (Ensembl:ENST00000631073) - c.2921G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
CA5327548 COSV53704991 RCV000526933 rs368252006 | 974 | R>W | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ESP ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135784568C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784568C>T Locations: - p.Arg974Trp (Ensembl:ENST00000631073) - c.2920C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53701171 | 980 | D>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135784586G>C Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784586G>C Locations: - p.D980H (NCI-TCGA:ENST00000631073) - p.Asp980His (cosmic curated:ENST00000631073) - c.2938G>C (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53698254 rs773093784 | 981 | T>I | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.626) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135784590C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784590C>T Locations: - p.Thr981Ile (Ensembl:ENST00000631073) - c.2942C>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
CA5327553 RCV000457699 RCV000516376 RCV001091225 RCV002270554 RCV002270555 RCV002313241 rs143780942 | 982 | T>A | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely pathogenic (Ensembl) | ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.00065 (ClinVar) Accession: NC_000009.12:g.135784592A>G Codon: ACG/GCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784592A>G Locations: - p.Thr982Ala (Ensembl:ENST00000631073) - c.2944A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
CA5327555 RCV000493477 rs372775166 | 982 | T>K | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.332) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135784593C>A Codon: ACG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784593C>A Locations: - p.Thr982Lys (Ensembl:ENST00000631073) - c.2945C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001947274 rs372775166 | 982 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000008189 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135784593C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784593C>T Locations: - p.T982M (NCI-TCGA:ENST00000631073) - p.Thr982Met (Ensembl:ENST00000631073) - c.2945C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV001797003 rs143780942 | 982 | T>S | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135784592A>T Codon: ACG/TCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784592A>T Locations: - p.Thr982Ser (Ensembl:ENST00000631073) - c.2944A>T (Ensembl:ENST00000631073) Disease association: - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV001863590 RCV003322623 rs763585049 | 983 | P>L | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.94) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135784596C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784596C>T Locations: - p.Pro983Leu (Ensembl:ENST00000631073) - c.2948C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs763585049 | 983 | P>Q | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784596C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784596C>A Locations: - p.Pro983Gln (Ensembl:ENST00000631073) - c.2948C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53699774 rs1564390954 | 985 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.887) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135784602C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784602C>T Locations: - p.S985L (NCI-TCGA:ENST00000631073) - p.Ser985Leu (Ensembl:ENST00000631073) - c.2954C>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1368036970 | 987 | Y>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135784607T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784607T>C Locations: - p.Tyr987His (Ensembl:ENST00000631073) - c.2959T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001346068 rs1833891089 | 987 | Y>S | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.375) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784608A>C Codon: TAC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784608A>C Locations: - p.Tyr987Ser (Ensembl:ENST00000631073) - c.2960A>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs760012681 | 989 | C>Y | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.63) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784614G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784614G>A Locations: - p.Cys989Tyr (Ensembl:ENST00000631073) - c.2966G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs745590718 | 995 | E>K | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784773G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784773G>A Locations: - p.Glu995Lys (Ensembl:ENST00000631073) - c.2983G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs745590718 | 995 | E>Q | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784773G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784773G>C Locations: - p.Glu995Gln (Ensembl:ENST00000631073) - c.2983G>C (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV53704523 RCV001903243 rs779908455 | 997 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001602 (gnomAD) - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135784779G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784779G>A Locations: - p.D997N (NCI-TCGA:ENST00000631073) - p.Asp997Asn (Ensembl:ENST00000631073) - c.2989G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001331152 RCV003989679 rs779908455 | 997 | D>Y | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135784779G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784779G>T Locations: - p.Asp997Tyr (Ensembl:ENST00000631073) - c.2989G>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV000728661 RCV001211023 RCV002271017 RCV002271018 rs1450164108 | 998 | L>P | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784783T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784783T>C Locations: - p.Leu998Pro (Ensembl:ENST00000631073) - c.2993T>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001218182 rs1450164108 | 998 | L>R | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135784783T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784783T>G Locations: - p.Leu998Arg (Ensembl:ENST00000631073) - c.2993T>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1833911145 | 999 | W>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.511) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784787G>C Codon: TGG/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784787G>C Locations: - p.Trp999Cys (Ensembl:ENST00000631073) - c.2997G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1360729314 | 999 | W>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784785T>A Codon: TGG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784785T>A Locations: - p.Trp999Arg (Ensembl:ENST00000631073) - c.2995T>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs75727600 | 1000 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.778) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784789T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784789T>C Locations: - p.Ile1000Thr (Ensembl:ENST00000631073) - c.2999T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5327598 COSV99706709 RCV000514377 RCV001402271 RCV002448555 RCV003962419 rs747605326 | 1001 | R>C | KCNT1-related disorder (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.913) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00007 (ClinVar) Accession: NC_000009.12:g.135784791C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784791C>T Locations: - p.Arg1001Cys (Ensembl:ENST00000631073) - c.3001C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases - KCNT1-related disorder Source type: large scale study | |||||||
COSV53704630 RCV000662112 RCV000662113 RCV000799783 RCV002315986 RCV003133485 rs373365707 | 1001 | R>H | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar, NCI-TCGA) | cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.065) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00003206 (gnomAD) - MAF: 0.00005 (ClinVar) Accession: NC_000009.12:g.135784792G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784792G>A Locations: - p.R1001H (NCI-TCGA:ENST00000631073) - p.Arg1001His (Ensembl:ENST00000631073) - c.3002G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
COSV53715314 | 1001 | R>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135784791C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135784791C>A Locations: - p.Arg1001Ser (cosmic curated:ENST00000631073) - c.3001C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs773573319 | 1002 | T>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.802) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784795C>A Codon: ACG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784795C>A Locations: - p.Thr1002Lys (Ensembl:ENST00000631073) - c.3005C>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs773573319 | 1002 | T>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784795C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784795C>T Locations: - p.Thr1002Met (Ensembl:ENST00000631073) - c.3005C>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs773573319 | 1002 | T>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.852) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784795C>G Codon: ACG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784795C>G Locations: - p.Thr1002Arg (Ensembl:ENST00000631073) - c.3005C>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV104556892 | 1004 | G>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135784801G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135784801G>A Locations: - p.Gly1004Asp (cosmic curated:ENST00000631073) - c.3011G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV104375601 RCV001896954 rs754128567 | 1004 | G>S | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.608) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135784800G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784800G>A Locations: - p.Gly1004Ser (Ensembl:ENST00000631073) - c.3010G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV002008713 rs554853844 | 1005 | R>C | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135784803C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784803C>T Locations: - p.Arg1005Cys (Ensembl:ENST00000631073) - c.3013C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV53702453 RCV001322915 rs765283220 | 1005 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00004804 (gnomAD) - MAF: 0.00006 (ClinVar) Accession: NC_000009.12:g.135784804G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784804G>A Locations: - p.R1005H (NCI-TCGA:ENST00000631073) - p.Arg1005His (Ensembl:ENST00000631073) - c.3014G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53706420 | 1006 | L>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135784807T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135784807T>A Locations: - p.Leu1006His (cosmic curated:ENST00000631073) - c.3017T>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000797867 RCV002537059 rs1588401995 | 1007 | F>L | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.364) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784811C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784811C>G Locations: - p.Phe1007Leu (Ensembl:ENST00000631073) - c.3021C>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study Cross-references: | |||||||
rs781215895 | 1010 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.329) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.135784818C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784818C>T Locations: - p.Leu1010Phe (Ensembl:ENST00000631073) - c.3028C>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs750371003 | 1012 | S>C | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784825C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784825C>G Locations: - p.Ser1012Cys (Ensembl:ENST00000631073) - c.3035C>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
RCV001908354 RCV002324282 rs750371003 | 1012 | S>F | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135784825C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784825C>T Locations: - p.Ser1012Phe (Ensembl:ENST00000631073) - c.3035C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study Cross-references: | |||||||
rs1033543129 | 1012 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.941) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784824T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784824T>C Locations: - p.Ser1012Pro (Ensembl:ENST00000631073) - c.3034T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1588402030 | 1013 | S>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.913) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784828C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784828C>G Locations: - p.Ser1013Cys (Ensembl:ENST00000631073) - c.3038C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1445722117 | 1014 | S>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784831G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784831G>C Locations: - p.Ser1014Thr (Ensembl:ENST00000631073) - c.3041G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99707236 | 1015 | A>P | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135784833G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135784833G>C Locations: - p.Ala1015Pro (cosmic curated:ENST00000631073) - c.3043G>C (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5327613 RCV000465925 RCV001696803 rs779961735 | 1015 | A>T | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.292) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00004 (ClinVar) Accession: NC_000009.12:g.135784833G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784833G>A Locations: - p.Ala1015Thr (Ensembl:ENST00000631073) - c.3043G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53703089 RCV001219577 rs748937639 | 1016 | E>K | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.68) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135784836G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784836G>A Locations: - p.Glu1016Lys (Ensembl:ENST00000631073) - c.3046G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1242792140 | 1018 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784842C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784842C>A Locations: - p.Pro1018Thr (Ensembl:ENST00000631073) - c.3052C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1344931963 | 1019 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.626) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784846T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784846T>C Locations: - p.Ile1019Thr (Ensembl:ENST00000631073) - c.3056T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99704930 | 1020 | G>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135784849G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135784849G>A Locations: - p.Gly1020Asp (cosmic curated:ENST00000631073) - c.3059G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1833915998 | 1020 | G>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784849G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784849G>T Locations: - p.Gly1020Val (Ensembl:ENST00000631073) - c.3059G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs747632234 | 1021 | I>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.941) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784851A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784851A>T Locations: - p.Ile1021Phe (Ensembl:ENST00000631073) - c.3061A>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5327619 COSV107221933 RCV000650636 rs763578184 | 1023 | R>Q | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135784858G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784858G>A Locations: - p.Arg1023Gln (Ensembl:ENST00000631073) - c.3068G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV000816176 rs772472766 | 1023 | R>W | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135784857C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784857C>T Locations: - p.Arg1023Trp (Ensembl:ENST00000631073) - c.3067C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1361200980 | 1024 | T>I | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784861C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784861C>T Locations: - p.Thr1024Ile (Ensembl:ENST00000631073) - c.3071C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001303591 RCV003388607 rs771326200 | 1025 | E>D | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.381) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135784865G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784865G>C Locations: - p.Glu1025Asp (Ensembl:ENST00000631073) - c.3075G>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1331212745 | 1025 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.59) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784864A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784864A>G Locations: - p.Glu1025Gly (Ensembl:ENST00000631073) - c.3074A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99705091 | 1025 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135784863G>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784863G>A Locations: - p.E1025K (NCI-TCGA:ENST00000631073) - p.Glu1025Lys (cosmic curated:ENST00000631073) - c.3073G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs150501177 | 1026 | S>I | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135784867G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784867G>T Locations: - p.Ser1026Ile (Ensembl:ENST00000631073) - c.3077G>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs150501177 | 1026 | S>N | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135784867G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784867G>A Locations: - p.Ser1026Asn (Ensembl:ENST00000631073) - c.3077G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1281337569 | 1028 | V>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784873T>G Codon: GTC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784873T>G Locations: - p.Val1028Gly (Ensembl:ENST00000631073) - c.3083T>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA201483797 RCV000502758 RCV001350755 RCV002270593 RCV002270594 rs760000324 | 1028 | V>I | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135784872G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784872G>A Locations: - p.Val1028Ile (Ensembl:ENST00000631073) - c.3082G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1833918106 | 1030 | S>A | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.58) Somatic: No Accession: NC_000009.12:g.135784878T>G Codon: TCC/GCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784878T>G Locations: - p.Ser1030Ala (Ensembl:ENST00000631073) - c.3088T>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99706879 | 1030 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135784879C>T Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784879C>T Locations: - p.S1030F (NCI-TCGA:ENST00000631073) - p.Ser1030Phe (cosmic curated:ENST00000631073) - c.3089C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV104556814 | 1030 | S>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135784879C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135784879C>A Locations: - p.Ser1030Tyr (cosmic curated:ENST00000631073) - c.3089C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001270711 RCV001362103 RCV001751539 RCV002271202 RCV002322175 rs1313669242 | 1031 | T>I | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.096) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000009.12:g.135784882C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784882C>T Locations: - p.Thr1031Ile (Ensembl:ENST00000631073) - c.3092C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
RCV001295147 rs375749415 | 1032 | S>* | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135784885C>A Codon: TCG/TAG Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784885C>A Locations: - p.Ser1032Ter (Ensembl:ENST00000631073) - c.3095C>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV53697281 RCV000795579 RCV001420547 RCV001538360 RCV002325514 rs375749415 | 1032 | S>L | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.145) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135784885C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784885C>T Locations: - p.Ser1032Leu (Ensembl:ENST00000631073) - c.3095C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
rs1833918942 | 1033 | E>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135784888A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135784888A>C Locations: - p.Glu1033Ala (Ensembl:ENST00000631073) - c.3098A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001040500 RCV002225787 RCV002271169 RCV002271170 rs776239808 | 1034 | P>H | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.276) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135785311C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135785311C>A Locations: - p.Pro1034His (Ensembl:ENST00000631073) - c.3101C>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53700009 rs776239808 | 1034 | P>R | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.03) Somatic: Yes Accession: NC_000009.12:g.135785311C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135785311C>G Locations: - p.Pro1034Arg (Ensembl:ENST00000631073) - c.3101C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001974602 rs1833952592 | 1034 | P>S | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000009.12:g.135785310C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135785310C>T Locations: - p.Pro1034Ser (Ensembl:ENST00000631073) - c.3100C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1351032582 | 1036 | D>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.135785317A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135785317A>C Locations: - p.Asp1036Ala (Ensembl:ENST00000631073) - c.3107A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1351032582 | 1036 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135785317A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135785317A>G Locations: - p.Asp1036Gly (Ensembl:ENST00000631073) - c.3107A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5327659 COSV53706451 RCV000458637 rs537379253 | 1036 | D>N | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.075) - SIFT: deleterious - low confidence (0.05) Somatic: Yes Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000009.12:g.135785316G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135785316G>A Locations: - p.Asp1036Asn (Ensembl:ENST00000631073) - c.3106G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs537379253 | 1036 | D>Y | Likely benign (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.157) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135785316G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135785316G>T Locations: - p.Asp1036Tyr (Ensembl:ENST00000631073) - c.3106G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53708460 | 1038 | R>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135785323G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135785323G>T Locations: - p.Arg1038Ile (cosmic curated:ENST00000631073) - c.3113G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs757774262 | 1039 | A>D | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135785326C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135785326C>A Locations: - p.Ala1039Asp (Ensembl:ENST00000631073) - c.3116C>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
RCV000689437 rs1564392375 | 1039 | A>T | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000009.12:g.135785325G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135785325G>A Locations: - p.Ala1039Thr (Ensembl:ENST00000631073) - c.3115G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001374284 rs757774262 | 1039 | A>V | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated - low confidence (0.08) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135785326C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135785326C>T Locations: - p.Ala1039Val (Ensembl:ENST00000631073) - c.3116C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1186079298 | 1040 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.651) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135785330G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135785330G>C Locations: - p.Gln1040His (Ensembl:ENST00000631073) - c.3120G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1489453171 | 1040 | Q>R | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.12) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.135785329A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135785329A>G Locations: - p.Gln1040Arg (Ensembl:ENST00000631073) - c.3119A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs758653391 | 1041 | S>C | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.582) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786198C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786198C>G Locations: - p.Ser1041Cys (Ensembl:ENST00000631073) - c.3122C>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
RCV001933245 rs758653391 | 1041 | S>F | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135786198C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786198C>T Locations: - p.Ser1041Phe (Ensembl:ENST00000631073) - c.3122C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1834034589 | 1042 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786201A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786201A>G Locations: - p.Gln1042Arg (Ensembl:ENST00000631073) - c.3125A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000811418 rs1588407407 | 1043 | I>T | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135786204T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786204T>C Locations: - p.Ile1043Thr (Ensembl:ENST00000631073) - c.3128T>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1379280431 | 1043 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.36) Somatic: No Accession: NC_000009.12:g.135786203A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786203A>G Locations: - p.Ile1043Val (Ensembl:ENST00000631073) - c.3127A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001294779 RCV003132377 rs1161728281 | 1044 | S>L | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135786207C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786207C>T Locations: - p.Ser1044Leu (Ensembl:ENST00000631073) - c.3131C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1161728281 | 1044 | S>W | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.652) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786207C>G Codon: TCG/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786207C>G Locations: - p.Ser1044Trp (Ensembl:ENST00000631073) - c.3131C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1465988623 | 1046 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786212A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786212A>G Locations: - p.Asn1046Asp (Ensembl:ENST00000631073) - c.3136A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1337906012 | 1046 | N>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786213A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786213A>T Locations: - p.Asn1046Ile (Ensembl:ENST00000631073) - c.3137A>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs747248633 | 1046 | N>K | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786214C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786214C>G Locations: - p.Asn1046Lys (Ensembl:ENST00000631073) - c.3138C>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
CA375491472 RCV000521097 RCV001857957 RCV002270619 RCV002270620 rs1554780631 | 1047 | V>A | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.05) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135786216T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786216T>C Locations: - p.Val1047Ala (Ensembl:ENST00000631073) - c.3140T>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1554780631 | 1047 | V>G | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786216T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786216T>G Locations: - p.Val1047Gly (Ensembl:ENST00000631073) - c.3140T>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53703391 RCV000706954 RCV000837370 rs553389226 | 1047 | V>M | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.34) Somatic: Yes Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000009.12:g.135786215G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786215G>A Locations: - p.Val1047Met (Ensembl:ENST00000631073) - c.3139G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1834036339 | 1048 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.135786220G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786220G>T Locations: - p.Glu1048Asp (Ensembl:ENST00000631073) - c.3144G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001930689 rs1834036491 | 1049 | D>N | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135786221G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786221G>A Locations: - p.Asp1049Asn (Ensembl:ENST00000631073) - c.3145G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs781225639 | 1050 | C>G | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000009.12:g.135786224T>G Codon: TGT/GGT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786224T>G Locations: - p.Cys1050Gly (Ensembl:ENST00000631073) - c.3148T>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
RCV000812912 rs781225639 | 1050 | C>S | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135786224T>A Codon: TGT/AGT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786224T>A Locations: - p.Cys1050Ser (Ensembl:ENST00000631073) - c.3148T>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV108014581 rs749242512 | 1050 | C>Y | Variant of uncertain significance (Ensembl) | cosmic curated ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.03) Somatic: Yes Accession: NC_000009.12:g.135786225G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786225G>A Locations: - p.Cys1050Tyr (Ensembl:ENST00000631073) - c.3149G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV53695853 | 1053 | T>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135786233A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135786233A>T Locations: - p.Thr1053Ser (cosmic curated:ENST00000631073) - c.3157A>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000693724 rs747837141 | 1054 | R>P | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135786237G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786237G>C Locations: - p.Arg1054Pro (Ensembl:ENST00000631073) - c.3161G>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs747837141 | 1054 | R>Q | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000009.12:g.135786237G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786237G>A Locations: - p.Arg1054Gln (Ensembl:ENST00000631073) - c.3161G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV53705192 RCV001092459 RCV001211100 RCV002271184 RCV002271185 rs768536067 | 1054 | R>W | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | cosmic curated ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.334) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135786236C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786236C>T Locations: - p.Arg1054Trp (Ensembl:ENST00000631073) - c.3160C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1462304897 | 1056 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.38) Somatic: No Accession: NC_000009.12:g.135786243T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786243T>C Locations: - p.Val1056Ala (Ensembl:ENST00000631073) - c.3167T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001813167 RCV001871696 RCV002271205 RCV002271206 RCV003399054 rs771889785 | 1056 | V>M | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135786242G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786242G>A Locations: - p.Val1056Met (Ensembl:ENST00000631073) - c.3166G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1237312655 | 1059 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.135786252C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786252C>T Locations: - p.Pro1059Leu (Ensembl:ENST00000631073) - c.3176C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001345543 rs1834038347 | 1059 | P>S | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.57) Somatic: No Accession: NC_000009.12:g.135786251C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786251C>T Locations: - p.Pro1059Ser (Ensembl:ENST00000631073) - c.3175C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
CA5327754 RCV000428869 RCV000513942 RCV001080086 RCV002270330 RCV002270331 RCV002313088 RCV003959927 rs200250181 | 1061 | G>V | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) KCNT1-related disorder (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000009.12:g.135786258G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786258G>T Locations: - p.Gly1061Val (Ensembl:ENST00000631073) - c.3182G>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases - KCNT1-related disorder Source type: large scale study Cross-references: | |||||||
RCV001234530 RCV004033247 rs1312042895 | 1062 | S>P | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.27) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135786260T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786260T>C Locations: - p.Ser1062Pro (Ensembl:ENST00000631073) - c.3184T>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study Cross-references: | |||||||
COSV99706628 | 1062 | S>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135786261C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135786261C>A Locations: - p.Ser1062Tyr (cosmic curated:ENST00000631073) - c.3185C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53695227 RCV000803285 RCV001200201 RCV002271042 RCV002271043 RCV002534739 rs776232246 | 1063 | R>C | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | cosmic curated ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.673) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00004 (ClinVar) Accession: NC_000009.12:g.135786263C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786263C>T Locations: - p.Arg1063Cys (Ensembl:ENST00000631073) - c.3187C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
CA16612656 RCV000468783 rs776232246 | 1063 | R>G | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl) | ClinGen ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000009.12:g.135786263C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786263C>G Locations: - p.Arg1063Gly (Ensembl:ENST00000631073) - c.3187C>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
CA5327757 RCV000522639 RCV001210465 rs760151844 | 1063 | R>H | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.502) - SIFT: deleterious - low confidence (0.03) Somatic: No Population frequencies: - MAF: 0.00004 (ClinVar) Accession: NC_000009.12:g.135786264G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786264G>A Locations: - p.Arg1063His (Ensembl:ENST00000631073) - c.3188G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV99705974 | 1063 | R>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135786264G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135786264G>T Locations: - p.Arg1063Leu (cosmic curated:ENST00000631073) - c.3188G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000768249 rs917893164 | 1064 | A>P | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000009.12:g.135786266G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786266G>C Locations: - p.Ala1064Pro (Ensembl:ENST00000631073) - c.3190G>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV000868097 rs917893164 | 1064 | A>T | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.48) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135786266G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786266G>A Locations: - p.Ala1064Thr (Ensembl:ENST00000631073) - c.3190G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1432070983 | 1064 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000009.12:g.135786267C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786267C>T Locations: - p.Ala1064Val (Ensembl:ENST00000631073) - c.3191C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1170069126 | 1066 | T>I | Likely benign (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.44) Somatic: No Accession: NC_000009.12:g.135786273C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786273C>T Locations: - p.Thr1066Ile (Ensembl:ENST00000631073) - c.3197C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5327760 RCV000427821 RCV000727073 RCV001088566 RCV002318410 rs201156458 | 1067 | G>R | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.00032 (ClinVar) Accession: NC_000009.12:g.135786275G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786275G>A Locations: - p.Gly1067Arg (Ensembl:ENST00000631073) - c.3199G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
COSV53708109 | 1068 | G>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135786278G>T Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786278G>T Locations: - p.G1068C (NCI-TCGA:ENST00000631073) - p.Gly1068Cys (cosmic curated:ENST00000631073) - c.3202G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001034392 rs1834040486 | 1068 | G>D | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135786279G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786279G>A Locations: - p.Gly1068Asp (Ensembl:ENST00000631073) - c.3203G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs751777758 | 1071 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135786287C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786287C>T Locations: - p.Gln1071Ter (Ensembl:ENST00000631073) - c.3211C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99707002 | 1071 | Q>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135786287C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135786287C>A Locations: - p.Gln1071Lys (cosmic curated:ENST00000631073) - c.3211C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs2131581886 | 1072 | G>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.228) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000009.12:g.135786290G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786290G>T Locations: - p.Gly1072Cys (Ensembl:ENST00000631073) - c.3214G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA16612553 COSV99704705 RCV000458975 RCV002446848 rs1060503695 | 1073 | R>C | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Benign (ClinVar) | ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.185) - SIFT: deleterious - low confidence (0.04) Somatic: Yes Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000009.12:g.135786293C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786293C>T Locations: - p.Arg1073Cys (Ensembl:ENST00000631073) - c.3217C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
CA5327765 COSV53709422 RCV000529700 RCV004024236 rs369576806 | 1073 | R>H | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Population frequencies: - MAF: 0.00015 (ClinVar) Accession: NC_000009.12:g.135786294G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786294G>A Locations: - p.Arg1073His (Ensembl:ENST00000631073) - c.3218G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
rs1834041551 | 1074 | H>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.135786298C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786298C>A Locations: - p.His1074Gln (Ensembl:ENST00000631073) - c.3222C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5327766 RCV000544735 RCV000592097 RCV000727041 RCV002324040 rs373041291 | 1075 | T>M | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.108) - SIFT: deleterious - low confidence (0.03) Somatic: No Population frequencies: - MAF: 0.00004 (ClinVar) Accession: NC_000009.12:g.135786300C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786300C>T Locations: - p.Thr1075Met (Ensembl:ENST00000631073) - c.3224C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
rs373041291 | 1075 | T>R | Likely benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135786300C>G Codon: ACG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786300C>G Locations: - p.Thr1075Arg (Ensembl:ENST00000631073) - c.3224C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001300714 rs1206215512 | 1076 | G>D | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated - low confidence (0.05) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135786303G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786303G>A Locations: - p.Gly1076Asp (Ensembl:ENST00000631073) - c.3227G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV53701517 RCV000797738 RCV002537053 rs748115007 | 1077 | G>S | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135786305G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786305G>A Locations: - p.Gly1077Ser (Ensembl:ENST00000631073) - c.3229G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
rs958314822 | 1078 | G>D | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135786309G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786309G>A Locations: - p.Gly1078Asp (Ensembl:ENST00000631073) - c.3233G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5327771 RCV000434858 RCV000703525 RCV002270476 RCV002270477 RCV003129860 RCV004022504 rs199779214 | 1078 | G>S | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) - MAF: 0.000196232 (1000Genomes) Accession: NC_000009.12:g.135786308G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786308G>A Locations: - p.Gly1078Ser (Ensembl:ENST00000631073) - c.3232G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study Cross-references: | |||||||
rs958314822 | 1078 | G>V | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135786309G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786309G>T Locations: - p.Gly1078Val (Ensembl:ENST00000631073) - c.3233G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs746666734 | 1079 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.136) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786311G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786311G>A Locations: - p.Asp1079Asn (Ensembl:ENST00000631073) - c.3235G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs776285392 | 1080 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000009.12:g.135786315C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786315C>T Locations: - p.Pro1080Leu (Ensembl:ENST00000631073) - c.3239C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA202185 COSV105822102 RCV000176945 RCV000418473 RCV001085974 RCV002269835 RCV002269836 RCV002313897 rs200642629 | 1080 | P>S | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: tolerated - low confidence (0.23) Somatic: Yes Population frequencies: - MAF: 0.0024 (ClinVar) Accession: NC_000009.12:g.135786314C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786314C>T Locations: - p.Pro1080Ser (Ensembl:ENST00000631073) - c.3238C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study Cross-references: | |||||||
rs200642629 | 1080 | P>T | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000009.12:g.135786314C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786314C>A Locations: - p.Pro1080Thr (Ensembl:ENST00000631073) - c.3238C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5327776 COSV53698810 RCV000529476 rs769422518 | 1081 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.04) Somatic: Yes Population frequencies: - MAF: 0.00001926 (gnomAD) - MAF: 0.00003 (ClinVar) Accession: NC_000009.12:g.135786317G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786317G>A Locations: - p.A1081T (NCI-TCGA:ENST00000631073) - p.Ala1081Thr (Ensembl:ENST00000631073) - c.3241G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1834044297 | 1081 | A>V | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000009.12:g.135786318C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786318C>T Locations: - p.Ala1081Val (Ensembl:ENST00000631073) - c.3242C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1303537620 | 1082 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000009.12:g.135786322G>T, NC_000009.12:g.135786322G>C Codon: GAG/GAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786322G>T, NC_000009.12:g.135786322G>C Locations: - p.Glu1082Asp (Ensembl:ENST00000631073) - c.3246G>T (Ensembl:ENST00000631073) - c.3246G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1423843692 | 1082 | E>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135786320G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786320G>C Locations: - p.Glu1082Gln (Ensembl:ENST00000631073) - c.3244G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001321601 RCV002543829 rs1347095932 | 1084 | P>T | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.145) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135786326C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786326C>A Locations: - p.Pro1084Thr (Ensembl:ENST00000631073) - c.3250C>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study Cross-references: | |||||||
rs996610690 | 1085 | L>M | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786329C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786329C>A Locations: - p.Leu1085Met (Ensembl:ENST00000631073) - c.3253C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000811877 rs996610690 | 1085 | L>V | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135786329C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786329C>G Locations: - p.Leu1085Val (Ensembl:ENST00000631073) - c.3253C>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs542409033 | 1087 | R>G | Likely benign (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786335C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786335C>G Locations: - p.Arg1087Gly (Ensembl:ENST00000631073) - c.3259C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs561255614 | 1087 | R>L | Benign (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.358) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786336G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786336G>T Locations: - p.Arg1087Leu (Ensembl:ENST00000631073) - c.3260G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5327781 RCV000441582 rs561255614 | 1087 | R>P | Benign (Ensembl) | ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.0012 (ClinVar) Accession: NC_000009.12:g.135786336G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786336G>C Locations: - p.Arg1087Pro (Ensembl:ENST00000631073) - c.3260G>C (Ensembl:ENST00000631073) Source type: large scale study | |||||||
CA5327779 COSV107221906 RCV000395206 RCV000559220 RCV002270197 RCV002270198 RCV002311398 RCV003977722 rs561255614 | 1087 | R>Q | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) KCNT1-related disorder (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.0012 (ClinVar) Accession: NC_000009.12:g.135786336G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786336G>A Locations: - p.Arg1087Gln (Ensembl:ENST00000631073) - c.3260G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases - KCNT1-related disorder Source type: large scale study Cross-references: | |||||||
COSV99706461 RCV001217563 RCV003132282 rs542409033 | 1087 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl) | NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000009.12:g.135786335C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786335C>T Locations: - p.R1087W (NCI-TCGA:ENST00000631073) - p.Arg1087Trp (Ensembl:ENST00000631073) - c.3259C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV104556879 RCV001933414 rs750627411 | 1088 | R>C | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.582) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.0001 (ClinVar) Accession: NC_000009.12:g.135786338C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786338C>T Locations: - p.Arg1088Cys (Ensembl:ENST00000631073) - c.3262C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001069815 RCV001534881 RCV002318362 rs756256138 | 1088 | R>H | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135786339G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786339G>A Locations: - p.Arg1088His (Ensembl:ENST00000631073) - c.3263G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
rs756256138 | 1088 | R>P | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.407) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786339G>C Codon: CGC/CCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786339G>C Locations: - p.Arg1088Pro (Ensembl:ENST00000631073) - c.3263G>C (Ensembl:ENST00000631073) Source type: large scale study | |||||||
VAR_078642 CA5327785 RCV000537527 rs758311066 | 1088 | R>Q | DEE14; uncertain significance (UniProt) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00015 (ClinVar) Accession: NC_000009.12:g.135786360G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786360G>A Locations: - p.Arg1088Gln (UniProt:Q5JUK3) - p.Arg1095Gln (Ensembl:ENST00000631073) - c.3284G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy 14 (DEE14) - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: mixed | |||||||
rs750627411 | 1088 | R>S | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786338C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786338C>A Locations: - p.Arg1088Ser (Ensembl:ENST00000631073) - c.3262C>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
RCV001945051 RCV003330102 rs1358295612 | 1089 | K>E | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.306) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135786341A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786341A>G Locations: - p.Lys1089Glu (Ensembl:ENST00000631073) - c.3265A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV000809790 RCV003413626 rs1588407944 | 1090 | S>N | KCNT1-related disorder (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.692) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786345G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786345G>A Locations: - p.Ser1090Asn (Ensembl:ENST00000631073) - c.3269G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - KCNT1-related disorder Source type: large scale study Cross-references: | |||||||
COSV53702984 | 1091 | L>P | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135786348T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135786348T>C Locations: - p.Leu1091Pro (cosmic curated:ENST00000631073) - c.3272T>C (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1294435223 | 1092 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786350C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786350C>G Locations: - p.Gln1092Glu (Ensembl:ENST00000631073) - c.3274C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1487490891 | 1093 | W>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786353T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786353T>C Locations: - p.Trp1093Arg (Ensembl:ENST00000631073) - c.3277T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000988292 RCV001858689 rs1193627908 | 1094 | A>D | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely pathogenic (Ensembl) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135786357C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786357C>A Locations: - p.Ala1094Asp (Ensembl:ENST00000631073) - c.3281C>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1302351309 | 1094 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.804) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786356G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786356G>C Locations: - p.Ala1094Pro (Ensembl:ENST00000631073) - c.3280G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1302351309 | 1094 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.306) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786356G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786356G>T Locations: - p.Ala1094Ser (Ensembl:ENST00000631073) - c.3280G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1193627908 | 1094 | A>V | Likely pathogenic (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786357C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786357C>T Locations: - p.Ala1094Val (Ensembl:ENST00000631073) - c.3281C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001863350 rs370085077 | 1095 | R>G | Developmental and epileptic encephalopathy, 14 (ClinVar) | Benign (Ensembl) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.25) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786359C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786359C>G Locations: - p.Arg1095Gly (Ensembl:ENST00000631073) - c.3283C>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
CA205412 RCV000192532 RCV000445186 RCV001085819 RCV002269971 RCV002269972 RCV002321775 RCV003907692 rs370085077 | 1095 | R>W | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) KCNT1-related disorder (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.905) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000009.12:g.135786359C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786359C>T Locations: - p.Arg1095Trp (Ensembl:ENST00000631073) - c.3283C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases - KCNT1-related disorder Source type: large scale study Cross-references: | |||||||
rs909782597 | 1097 | L>M | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.141) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135786365C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786365C>A Locations: - p.Leu1097Met (Ensembl:ENST00000631073) - c.3289C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1180185940 | 1098 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.645) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786369G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786369G>A Locations: - p.Ser1098Asn (Ensembl:ENST00000631073) - c.3293G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53696486 rs777460659 | 1099 | R>C | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135786371C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786371C>T Locations: - p.Arg1099Cys (Ensembl:ENST00000631073) - c.3295C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs777460659 | 1099 | R>G | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786371C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786371C>G Locations: - p.Arg1099Gly (Ensembl:ENST00000631073) - c.3295C>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV53709204 RCV001591699 RCV001866144 RCV002271272 rs1055618053 | 1099 | R>H | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.673) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135786372G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786372G>A Locations: - p.Arg1099His (Ensembl:ENST00000631073) - c.3296G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1055618053 | 1099 | R>L | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786372G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786372G>T Locations: - p.Arg1099Leu (Ensembl:ENST00000631073) - c.3296G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1367244033 | 1100 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.145) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786374A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786374A>G Locations: - p.Lys1100Glu (Ensembl:ENST00000631073) - c.3298A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs781049969 | 1100 | K>R | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000009.12:g.135786375A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786375A>G Locations: - p.Lys1100Arg (Ensembl:ENST00000631073) - c.3299A>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs781049969 | 1100 | K>T | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.251) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135786375A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786375A>C Locations: - p.Lys1100Thr (Ensembl:ENST00000631073) - c.3299A>C (Ensembl:ENST00000631073) Source type: large scale study | |||||||
CA5327790 RCV000519574 RCV001049572 RCV002270626 RCV002270627 rs745484103 | 1101 | A>V | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00005 (ClinVar) Accession: NC_000009.12:g.135786378C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786378C>T Locations: - p.Ala1101Val (Ensembl:ENST00000631073) - c.3302C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1432732653 | 1102 | P>S | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.57) Somatic: No Accession: NC_000009.12:g.135786380C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786380C>T Locations: - p.Pro1102Ser (Ensembl:ENST00000631073) - c.3304C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1834049847 | 1103 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000009.12:g.135786384A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786384A>G Locations: - p.Lys1103Arg (Ensembl:ENST00000631073) - c.3308A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99706993 | 1104 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135786388G>T Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786388G>T Locations: - p.Q1104H (NCI-TCGA:ENST00000631073) - p.Gln1104His (cosmic curated:ENST00000631073) - c.3312G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001326844 rs775015763 | 1104 | Q>R | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.17) Somatic: No Population frequencies: - MAF: 0.00006 (ClinVar) Accession: NC_000009.12:g.135786387A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786387A>G Locations: - p.Gln1104Arg (Ensembl:ENST00000631073) - c.3311A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV000702614 RCV001542341 RCV002270973 rs1381344367 | 1105 | A>V | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.07) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135786390C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786390C>T Locations: - p.Ala1105Val (Ensembl:ENST00000631073) - c.3314C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1316682933 | 1106 | G>A | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000009.12:g.135786393G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786393G>C Locations: - p.Gly1106Ala (Ensembl:ENST00000631073) - c.3317G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001227389 rs1316682933 | 1106 | G>D | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135786393G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786393G>A Locations: - p.Gly1106Asp (Ensembl:ENST00000631073) - c.3317G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1246301313 | 1106 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.455) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.135786392G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786392G>C Locations: - p.Gly1106Arg (Ensembl:ENST00000631073) - c.3316G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1246301313 | 1106 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000009.12:g.135786392G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786392G>A Locations: - p.Gly1106Ser (Ensembl:ENST00000631073) - c.3316G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs763400879 | 1107 | R>G | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000009.12:g.135786395C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786395C>G Locations: - p.Arg1107Gly (Ensembl:ENST00000631073) - c.3319C>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs769135500 | 1107 | R>P | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135786396G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786396G>C Locations: - p.Arg1107Pro (Ensembl:ENST00000631073) - c.3320G>C (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV53709010 RCV001569645 RCV001866016 rs769135500 | 1107 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Population frequencies: - MAF: 0.00001727 (gnomAD) - MAF: 0.00003 (ClinVar) Accession: NC_000009.12:g.135786396G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786396G>A Locations: - p.R1107Q (NCI-TCGA:ENST00000631073) - p.Arg1107Gln (Ensembl:ENST00000631073) - c.3320G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV000810311 RCV001310686 rs763400879 | 1107 | R>W | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.525) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) - MAF: 0.000196232 (1000Genomes) Accession: NC_000009.12:g.135786395C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786395C>T Locations: - p.Arg1107Trp (Ensembl:ENST00000631073) - c.3319C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1588408157 | 1108 | A>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000009.12:g.135786398G>C Codon: GCG/CCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786398G>C Locations: - p.Ala1108Pro (Ensembl:ENST00000631073) - c.3322G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5327795 COSV53706986 RCV000542893 RCV000613455 RCV002270656 RCV002270657 RCV002456229 rs774589071 | 1108 | A>V | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.12) Somatic: Yes Population frequencies: - MAF: 0.00019 (ClinVar) Accession: NC_000009.12:g.135786399C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786399C>T Locations: - p.Ala1108Val (Ensembl:ENST00000631073) - c.3323C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
rs767860930 | 1109 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135786401G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786401G>A Locations: - p.Ala1109Thr (Ensembl:ENST00000631073) - c.3325G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
CA5327798 COSV99705814 RCV000223967 RCV001080305 RCV002270026 RCV002270027 RCV002317746 RCV003919904 rs143704418 | 1109 | A>V | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) KCNT1-related disorder (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.08) Somatic: Yes Population frequencies: - MAF: 0.0006 (ClinVar) Accession: NC_000009.12:g.135786402C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786402C>T Locations: - p.Ala1109Val (Ensembl:ENST00000631073) - c.3326C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases - KCNT1-related disorder Source type: large scale study Cross-references: | |||||||
RCV001338937 rs1834052820 | 1110 | A>T | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.95) Somatic: No Accession: NC_000009.12:g.135786404G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786404G>A Locations: - p.Ala1110Thr (Ensembl:ENST00000631073) - c.3328G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs766394913 | 1110 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786405C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786405C>T Locations: - p.Ala1110Val (Ensembl:ENST00000631073) - c.3329C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001339950 rs138421850 | 1111 | A>S | Developmental and epileptic encephalopathy, 14 (ClinVar) | Benign (Ensembl) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00839 (ClinVar) Accession: NC_000009.12:g.135786407G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786407G>T Locations: - p.Ala1111Ser (Ensembl:ENST00000631073) - c.3331G>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
CA153316 COSV53712185 RCV000117370 RCV000229018 RCV000439332 RCV001270161 RCV002269839 RCV002312162 rs138421850 | 1111 | A>T | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated - low confidence (0.13) Somatic: Yes Population frequencies: - MAF: 0.00839 (ClinVar) Accession: NC_000009.12:g.135786407G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786407G>A Locations: - p.Ala1111Thr (Ensembl:ENST00000631073) - c.3331G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study Cross-references: | |||||||
rs370572162 | 1111 | A>V | Likely benign (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.197) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135786408C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786408C>T Locations: - p.Ala1111Val (Ensembl:ENST00000631073) - c.3332C>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1834054249 | 1112 | E>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135786411A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786411A>C Locations: - p.Glu1112Ala (Ensembl:ENST00000631073) - c.3335A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs781111074 | 1112 | E>D | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135786412G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786412G>T Locations: - p.Glu1112Asp (Ensembl:ENST00000631073) - c.3336G>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV108014422 RCV001984584 rs2131582676 | 1112 | E>K | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135786410G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786410G>A Locations: - p.Glu1112Lys (Ensembl:ENST00000631073) - c.3334G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1834054777 | 1113 | W>C | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.672) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.135786415G>T, NC_000009.12:g.135786415G>C Codon: TGG/TGT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786415G>T, NC_000009.12:g.135786415G>C Locations: - p.Trp1113Cys (Ensembl:ENST00000631073) - c.3339G>T (Ensembl:ENST00000631073) - c.3339G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV107221898 RCV001907737 rs1408375707 | 1114 | I>F | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.204) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000009.12:g.135786416A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786416A>T Locations: - p.Ile1114Phe (Ensembl:ENST00000631073) - c.3340A>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1408375707 | 1114 | I>L | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786416A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786416A>C Locations: - p.Ile1114Leu (Ensembl:ENST00000631073) - c.3340A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001230490 rs1332070255 | 1115 | S>G | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.11) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135786419A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786419A>G Locations: - p.Ser1115Gly (Ensembl:ENST00000631073) - c.3343A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1834055738 | 1115 | S>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.133) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786421C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786421C>G Locations: - p.Ser1115Arg (Ensembl:ENST00000631073) - c.3345C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs755751357 | 1117 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135786425C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786425C>T Locations: - p.Gln1117Ter (Ensembl:ENST00000631073) - c.3349C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs755751357 | 1117 | Q>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.23) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786425C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786425C>G Locations: - p.Gln1117Glu (Ensembl:ENST00000631073) - c.3349C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001913020 RCV002291784 rs779430817 | 1118 | R>C | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.722) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135786428C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786428C>T Locations: - p.Arg1118Cys (Ensembl:ENST00000631073) - c.3352C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV001219178 rs568818508 | 1118 | R>H | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.722) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) - MAF: 0.000196232 (1000Genomes) Accession: NC_000009.12:g.135786429G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786429G>A Locations: - p.Arg1118His (Ensembl:ENST00000631073) - c.3353G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV53701042 rs779430817 | 1118 | R>S | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.217) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135786428C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786428C>A Locations: - p.Arg1118Ser (Ensembl:ENST00000631073) - c.3352C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1374194638 | 1120 | S>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135786434A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786434A>G Locations: - p.Ser1120Gly (Ensembl:ENST00000631073) - c.3358A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99036652 rs1834057026 | 1120 | S>R | Variant of uncertain significance (Ensembl) | cosmic curated TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000009.12:g.135786436C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786436C>A Locations: - p.Ser1120Arg (Ensembl:ENST00000631073) - c.3360C>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
RCV001368967 rs1237797436 | 1121 | L>M | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.804) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786437C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786437C>A Locations: - p.Leu1121Met (Ensembl:ENST00000631073) - c.3361C>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV002041567 rs774987263 | 1121 | L>Q | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.846) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135786438T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786438T>A Locations: - p.Leu1121Gln (Ensembl:ENST00000631073) - c.3362T>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs771497610 | 1122 | Y>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135786441dup Codon: TAC/TAAC Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786441dup Locations: - p.Tyr1122Ter (Ensembl:ENST00000631073) - c.3365dup (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1263026429 | 1122 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000009.12:g.135786441A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786441A>G Locations: - p.Tyr1122Cys (Ensembl:ENST00000631073) - c.3365A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs773520283 | 1123 | R>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.145) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786444G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786444G>T Locations: - p.Arg1123Leu (Ensembl:ENST00000631073) - c.3368G>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
CA5327814 RCV000650638 rs773520283 | 1123 | R>Q | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated - low confidence (0.07) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135786444G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786444G>A Locations: - p.Arg1123Gln (Ensembl:ENST00000631073) - c.3368G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV53700126 COSV108014566 rs772478093 | 1123 | R>W | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.758) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135786442-135786443CC>TT, NC_000009.12:g.135786443C>T Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786442-135786443CC>TT, NC_000009.12:g.135786443C>T Locations: - p.Arg1123Trp (cosmic curated:ENST00000631073) - c.3366_3367delinsTT (cosmic curated:ENST00000631073) - p.Arg1123Trp (Ensembl:ENST00000631073) - c.3367C>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs760923308 | 1124 | R>C | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135786446C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786446C>T Locations: - p.Arg1124Cys (Ensembl:ENST00000631073) - c.3370C>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
CA375492154 RCV000650654 RCV001169978 rs1182743416 | 1124 | R>H | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.722) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135786447G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786447G>A Locations: - p.Arg1124His (Ensembl:ENST00000631073) - c.3371G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001904876 rs760923308 | 1124 | R>S | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.123) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786446C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786446C>A Locations: - p.Arg1124Ser (Ensembl:ENST00000631073) - c.3370C>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV001212182 RCV003973143 rs766557144 | 1125 | S>C | KCNT1-related disorder (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.846) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135786450C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786450C>G Locations: - p.Ser1125Cys (Ensembl:ENST00000631073) - c.3374C>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - KCNT1-related disorder Source type: large scale study Cross-references: | |||||||
RCV001872287 rs2131582898 | 1125 | S>P | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786449T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786449T>C Locations: - p.Ser1125Pro (Ensembl:ENST00000631073) - c.3373T>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1232310349 | 1126 | E>K | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.381) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786452G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786452G>A Locations: - p.Glu1126Lys (Ensembl:ENST00000631073) - c.3376G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1834058912 | 1126 | E>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.503) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786453A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786453A>T Locations: - p.Glu1126Val (Ensembl:ENST00000631073) - c.3377A>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001757265 rs1471022566 | 1127 | R>C | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786455C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786455C>T Locations: - p.Arg1127Cys (Ensembl:ENST00000631073) - c.3379C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5327817 COSV105045296 RCV000550925 RCV001692185 RCV002270660 RCV002270661 RCV002456230 RCV003935505 rs368339692 | 1127 | R>H | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) KCNT1-related disorder (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.0006 (ClinVar) Accession: NC_000009.12:g.135786456G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786456G>A Locations: - p.Arg1127His (Ensembl:ENST00000631073) - c.3380G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases - KCNT1-related disorder Source type: large scale study Cross-references: | |||||||
rs368339692 | 1127 | R>L | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786456G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786456G>T Locations: - p.Arg1127Leu (Ensembl:ENST00000631073) - c.3380G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1471022566 | 1127 | R>S | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786455C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786455C>A Locations: - p.Arg1127Ser (Ensembl:ENST00000631073) - c.3379C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs765230101 | 1128 | Q>H | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.509) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786460G>C, NC_000009.12:g.135786460G>T Codon: CAG/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786460G>C, NC_000009.12:g.135786460G>T Locations: - p.Gln1128His (Ensembl:ENST00000631073) - c.3384G>C (Ensembl:ENST00000631073) - c.3384G>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
RCV001346720 RCV002547456 rs1177972273 | 1130 | L>F | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135786464C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786464C>T Locations: - p.Leu1130Phe (Ensembl:ENST00000631073) - c.3388C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study Cross-references: | |||||||
COSV53709446 | 1131 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135786468C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135786468C>T Locations: - p.Ser1131Phe (cosmic curated:ENST00000631073) - c.3392C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99706715 | 1132 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135786470G>T Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786470G>T Locations: - p.E1132* (NCI-TCGA:ENST00000631073) - p.Glu1132Ter (cosmic curated:ENST00000631073) - c.3394G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000988293 RCV001318880 RCV002271145 rs767450181 | 1132 | E>K | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.191) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135786470G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786470G>A Locations: - p.Glu1132Lys (Ensembl:ENST00000631073) - c.3394G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs767450181 | 1132 | E>Q | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.511) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786470G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786470G>C Locations: - p.Glu1132Gln (Ensembl:ENST00000631073) - c.3394G>C (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1834060642 | 1134 | V>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.835) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786476G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786476G>C Locations: - p.Val1134Leu (Ensembl:ENST00000631073) - c.3400G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs750176430 | 1135 | K>E | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.123) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786479A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786479A>G Locations: - p.Lys1135Glu (Ensembl:ENST00000631073) - c.3403A>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs779810960 | 1135 | K>M | Likely benign (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.722) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786480A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786480A>T Locations: - p.Lys1135Met (Ensembl:ENST00000631073) - c.3404A>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000797458 rs750176430 | 1135 | K>Q | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.244) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135786479A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786479A>C Locations: - p.Lys1135Gln (Ensembl:ENST00000631073) - c.3403A>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
CA375492311 RCV000525520 rs779810960 | 1135 | K>R | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000009.12:g.135786480A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786480A>G Locations: - p.Lys1135Arg (Ensembl:ENST00000631073) - c.3404A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV001308669 RCV001751590 RCV002271214 RCV002271215 rs1834060931 | 1135 | K>V | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.314) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786479_135786480delinsGT Codon: AAG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786479_135786480delinsGT Locations: - p.Lys1135Val (Ensembl:ENST00000631073) - c.3403_3404delinsGT (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1283268556 | 1136 | N>S | Likely benign (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786483A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786483A>G Locations: - p.Asn1136Ser (Ensembl:ENST00000631073) - c.3407A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA375492326 COSV53696101 RCV000650652 rs1283268556 | 1136 | N>T | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000009.12:g.135786483A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786483A>C Locations: - p.Asn1136Thr (Ensembl:ENST00000631073) - c.3407A>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1225832562 | 1137 | R>C | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.813) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786485C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786485C>T Locations: - p.Arg1137Cys (Ensembl:ENST00000631073) - c.3409C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001310687 rs867696317 | 1137 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.813) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000009081 (gnomAD) Accession: NC_000009.12:g.135786486G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786486G>A Locations: - p.R1137H (NCI-TCGA:ENST00000631073) - p.Arg1137His (Ensembl:ENST00000631073) - c.3410G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV99705508 | 1137 | R>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135786485C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135786485C>A Locations: - p.Arg1137Ser (cosmic curated:ENST00000631073) - c.3409C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA375492367 COSV104556884 RCV000490041 rs1085307807 | 1138 | M>I | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.145) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135786490G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786490G>A Locations: - p.Met1138Ile (Ensembl:ENST00000631073) - c.3414G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs964198281 | 1140 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.682) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786494C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786494C>T Locations: - p.His1140Tyr (Ensembl:ENST00000631073) - c.3418C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000821631 RCV001593017 RCV001759612 RCV002271050 rs1439404936 | 1144 | P>L | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.213) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135786507C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786507C>T Locations: - p.Pro1144Leu (Ensembl:ENST00000631073) - c.3431C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1834062430 | 1144 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786506C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786506C>T Locations: - p.Pro1144Ser (Ensembl:ENST00000631073) - c.3430C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1834062899 | 1145 | T>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.645) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786510C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786510C>A Locations: - p.Thr1145Asn (Ensembl:ENST00000631073) - c.3434C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001052422 RCV001281482 RCV002271174 RCV002271175 rs549276113 | 1146 | T>A | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000009.12:g.135786512A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786512A>G Locations: - p.Thr1146Ala (Ensembl:ENST00000631073) - c.3436A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001050320 rs748679465 | 1146 | T>I | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0.03) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135786513C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786513C>T Locations: - p.Thr1146Ile (Ensembl:ENST00000631073) - c.3437C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs748679465 | 1146 | T>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135786513C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786513C>G Locations: - p.Thr1146Ser (Ensembl:ENST00000631073) - c.3437C>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
RCV001058796 RCV003307889 rs1201438079 | 1147 | G>S | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.13) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00026 (ClinVar) Accession: NC_000009.12:g.135786515G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786515G>A Locations: - p.Gly1147Ser (Ensembl:ENST00000631073) - c.3439G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study Cross-references: | |||||||
rs982853886 | 1148 | Y>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.582) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135786519A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786519A>G Locations: - p.Tyr1148Cys (Ensembl:ENST00000631073) - c.3443A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53711347 | 1149 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135786521G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135786521G>T Locations: - p.Glu1149Ter (cosmic curated:ENST00000631073) - c.3445G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53712436 | 1149 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135788101G>T Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135788101G>T Locations: - p.E1149D (NCI-TCGA:ENST00000631073) - p.Glu1149Asp (cosmic curated:ENST00000631073) - c.3447G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5327832 COSV53707605 COSV53711347 RCV000550588 RCV001431327 rs747317425 | 1149 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00006899 (gnomAD) - MAF: 0.0001 (ClinVar) Accession: NC_000009.12:g.135786521G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135786521G>A Locations: - p.E1149K (NCI-TCGA:ENST00000631073) - p.Glu1149Lys (Ensembl:ENST00000631073) - c.3445G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1834212163 | 1149 | E>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135788100A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135788100A>T Locations: - p.Glu1149Val (Ensembl:ENST00000631073) - c.3446A>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs766221973 | 1150 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135788102G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135788102G>A Locations: - p.Asp1150Asn (Ensembl:ENST00000631073) - c.3448G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs752333255 | 1151 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135788106T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135788106T>C Locations: - p.Val1151Ala (Ensembl:ENST00000631073) - c.3452T>C (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV53700146 | 1151 | V>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135788106T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135788106T>A Locations: - p.Val1151Glu (cosmic curated:ENST00000631073) - c.3452T>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53705208 RCV000988294 rs759235951 | 1151 | V>I | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | cosmic curated ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135788105G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135788105G>A Locations: - p.Val1151Ile (Ensembl:ENST00000631073) - c.3451G>A (Ensembl:ENST00000631073) Disease association: - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs759235951 | 1151 | V>L | Likely benign (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135788105G>T Codon: GTA/TTA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135788105G>T Locations: - p.Val1151Leu (Ensembl:ENST00000631073) - c.3451G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53700916 | 1152 | A>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135788109C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135788109C>G Locations: - p.Ala1152Gly (cosmic curated:ENST00000631073) - c.3455C>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99706407 | 1153 | N>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135788113T>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135788113T>A Locations: - p.N1153K (NCI-TCGA:ENST00000631073) - p.Asn1153Lys (cosmic curated:ENST00000631073) - c.3459T>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs752158991 | 1155 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135788117A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135788117A>G Locations: - p.Thr1155Ala (Ensembl:ENST00000631073) - c.3463A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs752158991 | 1155 | T>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135788117A>C Codon: ACA/CCA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135788117A>C Locations: - p.Thr1155Pro (Ensembl:ENST00000631073) - c.3463A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53699529 | 1156 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135788121C>T Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135788121C>T Locations: - p.A1156V (NCI-TCGA:ENST00000631073) - p.Ala1156Val (cosmic curated:ENST00000631073) - c.3467C>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs757663021 | 1159 | V>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135788130T>G Codon: GTC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135788130T>G Locations: - p.Val1159Gly (Ensembl:ENST00000631073) - c.3476T>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1363526654 | 1160 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135788134G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135788134G>A Locations: - p.Met1160Ile (Ensembl:ENST00000631073) - c.3480G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1834214083 | 1160 | M>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135788132A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135788132A>G Locations: - p.Met1160Val (Ensembl:ENST00000631073) - c.3478A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000999288 rs1588412829 | 1162 | R>G | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135788138C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135788138C>G Locations: - p.Arg1162Gly (Ensembl:ENST00000631073) - c.3484C>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV53695146 rs746160320 | 1162 | R>Q | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135788139G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135788139G>A Locations: - p.Arg1162Gln (Ensembl:ENST00000631073) - c.3485G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53711416 rs1588412829 | 1162 | R>W | Variant of uncertain significance (Ensembl) | cosmic curated TOPMed | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.538) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135788138C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135788138C>T Locations: - p.Arg1162Trp (Ensembl:ENST00000631073) - c.3484C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99706525 | 1166 | G>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135788150G>T Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135788150G>T Locations: - p.G1166* (NCI-TCGA:ENST00000631073) - p.Gly1166Ter (cosmic curated:ENST00000631073) - c.3496G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1238157365 | 1169 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135788159C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135788159C>T Locations: - p.Gln1169Ter (Ensembl:ENST00000631073) - c.3505C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99706819 | 1169 | Q>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135788159C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135788159C>A Locations: - p.Gln1169Lys (cosmic curated:ENST00000631073) - c.3505C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53706738 RCV002008785 rs768746178 | 1171 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.531) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00004383 (gnomAD) - MAF: 0.00007 (ClinVar) Accession: NC_000009.12:g.135791799G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791799G>A Locations: - p.E1171K (NCI-TCGA:ENST00000631073) - p.Glu1171Lys (Ensembl:ENST00000631073) - c.3511G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1834554544 COSV53701810 | 1172 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.105) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Accession: NC_000009.12:g.135791804G>T, NC_000009.12:g.135791804G>A Codon: ATG/ATT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791804G>T, NC_000009.12:g.135791804G>A Locations: - p.Met1172Ile (Ensembl:ENST00000631073) - c.3516G>T (Ensembl:ENST00000631073) - p.M1172I (NCI-TCGA:ENST00000631073) - c.3516G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001363194 RCV001587374 RCV002271229 RCV002271230 rs1834554393 | 1172 | M>V | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.105) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135791802A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791802A>G Locations: - p.Met1172Val (Ensembl:ENST00000631073) - c.3514A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53698101 | 1174 | D>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135791810C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135791810C>A Locations: - p.Asp1174Glu (cosmic curated:ENST00000631073) - c.3522C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53696986 rs866875880 | 1174 | D>N | Variant of uncertain significance (Ensembl) | cosmic curated TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.311) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.135791808G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791808G>A Locations: - p.Asp1174Asn (Ensembl:ENST00000631073) - c.3520G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001658788 RCV003771818 rs1450163574 | 1175 | H>Y | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.141) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135791811C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791811C>T Locations: - p.His1175Tyr (Ensembl:ENST00000631073) - c.3523C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs772806390 | 1176 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135791814C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791814C>T Locations: - p.Gln1176Ter (Ensembl:ENST00000631073) - c.3526C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs761270493 | 1176 | Q>P | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.498) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135791815A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791815A>C Locations: - p.Gln1176Pro (Ensembl:ENST00000631073) - c.3527A>C (Ensembl:ENST00000631073) Source type: large scale study | |||||||
RCV001034222 rs761270493 | 1176 | Q>R | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135791815A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791815A>G Locations: - p.Gln1176Arg (Ensembl:ENST00000631073) - c.3527A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV001351972 rs139454881 | 1177 | N>K | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.5) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135791819C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791819C>G Locations: - p.Asn1177Lys (Ensembl:ENST00000631073) - c.3531C>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1052059776 | 1178 | T>A | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.213) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135791820A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791820A>G Locations: - p.Thr1178Ala (Ensembl:ENST00000631073) - c.3532A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1052059776 | 1178 | T>P | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.718) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135791820A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791820A>C Locations: - p.Thr1178Pro (Ensembl:ENST00000631073) - c.3532A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1474508355 | 1179 | L>F | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.294) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135791823C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791823C>T Locations: - p.Leu1179Phe (Ensembl:ENST00000631073) - c.3535C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001061226 rs1474508355 | 1179 | L>V | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.388) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135791823C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791823C>G Locations: - p.Leu1179Val (Ensembl:ENST00000631073) - c.3535C>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs149927148 | 1181 | Y>* | Benign (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135791831C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791831C>G Locations: - p.Tyr1181Ter (Ensembl:ENST00000631073) - c.3543C>G (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV99706839 RCV001313400 rs754383898 | 1182 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Population frequencies: - MAF: 0.00002388 (gnomAD) - MAF: 0.00005 (ClinVar) Accession: NC_000009.12:g.135791832G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791832G>A Locations: - p.V1182I (NCI-TCGA:ENST00000631073) - p.Val1182Ile (Ensembl:ENST00000631073) - c.3544G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53696479 | 1183 | L>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135791835C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135791835C>G Locations: - p.Leu1183Val (cosmic curated:ENST00000631073) - c.3547C>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001034199 RCV001270712 RCV002454258 rs1161862851 | 1184 | I>L | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.348) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135791838A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791838A>C Locations: - p.Ile1184Leu (Ensembl:ENST00000631073) - c.3550A>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study Cross-references: | |||||||
COSV106095300 | 1185 | N>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135791842A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135791842A>G Locations: - p.Asn1185Ser (cosmic curated:ENST00000631073) - c.3554A>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs892257771 | 1185 | N>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135791842A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791842A>C Locations: - p.Asn1185Thr (Ensembl:ENST00000631073) - c.3554A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53699991 | 1186 | P>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135791845C>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791845C>A Locations: - p.P1186H (NCI-TCGA:ENST00000631073) - p.Pro1186His (cosmic curated:ENST00000631073) - c.3557C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1834558171 | 1186 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135791844C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791844C>T Locations: - p.Pro1186Ser (Ensembl:ENST00000631073) - c.3556C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001318124 rs544495873 | 1187 | P>L | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) - MAF: 0.000196232 (1000Genomes) Accession: NC_000009.12:g.135791848C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791848C>T Locations: - p.Pro1187Leu (Ensembl:ENST00000631073) - c.3560C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs544495873 | 1187 | P>Q | Likely benign (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.648) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000009.12:g.135791848C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791848C>A Locations: - p.Pro1187Gln (Ensembl:ENST00000631073) - c.3560C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53703189 | 1188 | P>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135791851C>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791851C>A Locations: - p.P1188H (NCI-TCGA:ENST00000631073) - p.Pro1188His (cosmic curated:ENST00000631073) - c.3563C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs2131604749 | 1188 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135791851C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791851C>T Locations: - p.Pro1188Leu (Ensembl:ENST00000631073) - c.3563C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs757312500 | 1188 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.75) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135791850C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791850C>T Locations: - p.Pro1188Ser (Ensembl:ENST00000631073) - c.3562C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001059727 rs773695396 | 1189 | D>E | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.36) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135791855C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791855C>A Locations: - p.Asp1189Glu (Ensembl:ENST00000631073) - c.3567C>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV001977299 RCV003170279 rs142875411 | 1189 | D>H | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135791853G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791853G>C Locations: - p.Asp1189His (Ensembl:ENST00000631073) - c.3565G>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs142875411 | 1189 | D>N | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.223) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135791853G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791853G>A Locations: - p.Asp1189Asn (Ensembl:ENST00000631073) - c.3565G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs142875411 | 1189 | D>Y | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135791853G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791853G>T Locations: - p.Asp1189Tyr (Ensembl:ENST00000631073) - c.3565G>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs986265932 | 1190 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.954) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135791856A>G Codon: ACG/GCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791856A>G Locations: - p.Thr1190Ala (Ensembl:ENST00000631073) - c.3568A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5327949 RCV001722410 RCV001865484 RCV003258823 rs370090905 | 1190 | T>M | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135791857C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791857C>T Locations: - p.Thr1190Met (Ensembl:ENST00000631073) - c.3569C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
COSV99705568 | 1193 | E>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135791866A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135791866A>G Locations: - p.Glu1193Gly (cosmic curated:ENST00000631073) - c.3578A>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53710624 RCV001345959 rs1292390745 | 1193 | E>K | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.291) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135791865G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791865G>A Locations: - p.Glu1193Lys (Ensembl:ENST00000631073) - c.3577G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1445788992 | 1194 | P>A | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_000009.12:g.135791868C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791868C>G Locations: - p.Pro1194Ala (Ensembl:ENST00000631073) - c.3580C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53701569 | 1194 | P>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135791869C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135791869C>A Locations: - p.Pro1194His (cosmic curated:ENST00000631073) - c.3581C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5327951 RCV000594843 RCV001215111 RCV002270721 RCV002270722 RCV002532586 rs147654995 | 1194 | P>L | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000009.12:g.135791869C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791869C>T Locations: - p.Pro1194Leu (Ensembl:ENST00000631073) - c.3581C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
COSV53713691 RCV001298610 rs1445788992 | 1194 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.086) - SIFT: tolerated - low confidence (0.09) Somatic: Yes Accession: NC_000009.12:g.135791868C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791868C>T Locations: - p.P1194S (NCI-TCGA:ENST00000631073) - p.Pro1194Ser (Ensembl:ENST00000631073) - c.3580C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1310356060 | 1195 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000009.12:g.135791872G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791872G>A Locations: - p.Ser1195Asn (Ensembl:ENST00000631073) - c.3584G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001220111 RCV002562497 rs142340167 COSV53696761 | 1195 | S>R | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD cosmic curated | ||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00008 (ClinVar) Accession: NC_000009.12:g.135791873T>A, NC_000009.12:g.135791873T>G Codon: AGT/AGA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791873T>A, NC_000009.12:g.135791873T>G Locations: - p.Ser1195Arg (Ensembl:ENST00000631073) - c.3585T>A (Ensembl:ENST00000631073) - p.Ser1195Arg (cosmic curated:ENST00000631073) - c.3585T>G (cosmic curated:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
RCV002014549 TCGA novel rs2131604934 | 1196 | D>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar NCI-TCGA Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135791875A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791875A>G Locations: - p.D1196G (NCI-TCGA:ENST00000631073) - p.Asp1196Gly (Ensembl:ENST00000631073) - c.3587A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1834561222 | 1196 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135791874G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791874G>A Locations: - p.Asp1196Asn (Ensembl:ENST00000631073) - c.3586G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1958223798 | 1197 | I>L | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.12) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135791877A>C Codon: ATT/CTT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791877A>C Locations: - p.Ile1197Leu (Ensembl:ENST00000631073) - c.3589A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5327953 RCV000522354 rs777322392 | 1197 | I>T | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.448) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135791878T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791878T>C Locations: - p.Ile1197Thr (Ensembl:ENST00000631073) - c.3590T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001312344 RCV002271008 RCV002271009 RCV002318162 rs1171803758 | 1198 | V>I | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.473) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135791880G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135791880G>A Locations: - p.Val1198Ile (Ensembl:ENST00000631073) - c.3592G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
rs1834577126 | 1201 | I>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.788) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135792048A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792048A>C Locations: - p.Ile1201Leu (Ensembl:ENST00000631073) - c.3601A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1834577274 | 1201 | I>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.788) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135792050C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792050C>G Locations: - p.Ile1201Met (Ensembl:ENST00000631073) - c.3603C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5327992 COSV99706915 RCV000282131 RCV000464290 RCV002270199 RCV002270200 rs372028322 | 1202 | R>C | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.0006 (ClinVar) Accession: NC_000009.12:g.135792051C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792051C>T Locations: - p.Arg1202Cys (Ensembl:ENST00000631073) - c.3604C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV53695506 RCV001883921 RCV002552299 rs780857518 | 1202 | R>H | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135792052G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792052G>A Locations: - p.Arg1202His (Ensembl:ENST00000631073) - c.3605G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
COSV53714168 | 1202 | R>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135792052G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135792052G>T Locations: - p.Arg1202Leu (cosmic curated:ENST00000631073) - c.3605G>T (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV99705674 rs372028322 | 1202 | R>S | Variant of uncertain significance (Ensembl) | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000009.12:g.135792051C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792051C>A Locations: - p.Arg1202Ser (Ensembl:ENST00000631073) - c.3604C>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs868764861 | 1203 | S>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.716) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135792055C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792055C>T Locations: - p.Ser1203Phe (Ensembl:ENST00000631073) - c.3608C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1834578232 | 1203 | S>P | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000009.12:g.135792054T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792054T>C Locations: - p.Ser1203Pro (Ensembl:ENST00000631073) - c.3607T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1588423278 | 1204 | D>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.915) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135792058A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792058A>C Locations: - p.Asp1204Ala (Ensembl:ENST00000631073) - c.3611A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001217658 rs140628824 | 1204 | D>E | Developmental and epileptic encephalopathy, 14 (ClinVar) | Benign (Ensembl) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.954) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135792059C>A, NC_000009.12:g.135792059C>G Codon: GAC/GAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792059C>A, NC_000009.12:g.135792059C>G Locations: - p.Asp1204Glu (Ensembl:ENST00000631073) - c.3612C>A (Ensembl:ENST00000631073) - c.3612C>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs749733462 | 1204 | D>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135792057G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792057G>C Locations: - p.Asp1204His (Ensembl:ENST00000631073) - c.3610G>C (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs749733462 | 1204 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135792057G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792057G>A Locations: - p.Asp1204Asn (Ensembl:ENST00000631073) - c.3610G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
CA5328001 RCV000528578 rs762025166 | 1205 | P>H | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000009.12:g.135792061C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792061C>A Locations: - p.Pro1205His (Ensembl:ENST00000631073) - c.3614C>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs762025166 | 1205 | P>L | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.114) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135792061C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792061C>T Locations: - p.Pro1205Leu (Ensembl:ENST00000631073) - c.3614C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1459251825 | 1206 | L>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135792064T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792064T>G Locations: - p.Leu1206Arg (Ensembl:ENST00000631073) - c.3617T>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs759561558 | 1208 | H>N | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135792069C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792069C>A Locations: - p.His1208Asn (Ensembl:ENST00000631073) - c.3622C>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV53696954 | 1208 | H>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135792071C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135792071C>A Locations: - p.His1208Gln (cosmic curated:ENST00000631073) - c.3624C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001341471 RCV001550765 rs759561558 | 1208 | H>Y | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000009.12:g.135792069C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792069C>T Locations: - p.His1208Tyr (Ensembl:ENST00000631073) - c.3622C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
COSV53708369 RCV000693155 rs766339368 | 1209 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated - low confidence (0.19) Somatic: Yes Population frequencies: - MAF: 0.00005002 (gnomAD) - MAF: 0.00005 (ClinVar) Accession: NC_000009.12:g.135792072G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792072G>A Locations: - p.V1209M (NCI-TCGA:ENST00000631073) - p.Val1209Met (Ensembl:ENST00000631073) - c.3625G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV000697058 rs1564402008 | 1210 | A>T | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000009.12:g.135792075G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792075G>A Locations: - p.Ala1210Thr (Ensembl:ENST00000631073) - c.3628G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1245224043 | 1211 | S>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.166) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135792079G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792079G>T Locations: - p.Ser1211Ile (Ensembl:ENST00000631073) - c.3632G>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1245224043 | 1211 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.98) Somatic: No Accession: NC_000009.12:g.135792079G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792079G>A Locations: - p.Ser1211Asn (Ensembl:ENST00000631073) - c.3632G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001200202 rs1834581421 | 1212 | S>N | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135792082G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792082G>A Locations: - p.Ser1212Asn (Ensembl:ENST00000631073) - c.3635G>A (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1403668275 | 1212 | S>R | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.135) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135792083C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792083C>A Locations: - p.Ser1212Arg (Ensembl:ENST00000631073) - c.3636C>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5328006 RCV000650655 RCV001712294 RCV002270442 RCV002270443 RCV002313127 rs752729337 | 1213 | S>C | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.48) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.00011 (ClinVar) Accession: NC_000009.12:g.135792085C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792085C>G Locations: - p.Ser1213Cys (Ensembl:ENST00000631073) - c.3638C>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
COSV53694893 | 1214 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135792089G>C Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792089G>C Locations: - p.Q1214H (NCI-TCGA:ENST00000631073) - p.Gln1214His (cosmic curated:ENST00000631073) - c.3642G>C (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA375494379 RCV000650647 rs1554782444 | 1214 | Q>K | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000009.12:g.135792087C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792087C>A Locations: - p.Gln1214Lys (Ensembl:ENST00000631073) - c.3640C>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs762938430 | 1214 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000009.12:g.135792088A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792088A>G Locations: - p.Gln1214Arg (Ensembl:ENST00000631073) - c.3641A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53702957 rs1193223032 | 1215 | S>N | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.03) Somatic: Yes Accession: NC_000009.12:g.135792091G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792091G>A Locations: - p.Ser1215Asn (Ensembl:ENST00000631073) - c.3644G>A (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA206835 COSV99705263 RCV000193382 RCV000471444 RCV000656028 RCV001080555 RCV002311297 RCV003917754 rs138282349 | 1216 | R>Q | KCNT1-related disorder (ClinVar) Childhood epilepsy with centrotemporal spikes (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.07) Somatic: Yes Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000009.12:g.135792094G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792094G>A Locations: - p.Arg1216Gln (Ensembl:ENST00000631073) - c.3647G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Childhood epilepsy with centrotemporal spikes - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases - KCNT1-related disorder Source type: large scale study Cross-references: | |||||||
RCV001210010 rs150447764 | 1216 | R>W | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.551) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135792093C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792093C>T Locations: - p.Arg1216Trp (Ensembl:ENST00000631073) - c.3646C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV001220514 rs1834583130 | 1218 | S>R | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.133) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135792099A>C Codon: AGC/CGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792099A>C Locations: - p.Ser1218Arg (Ensembl:ENST00000631073) - c.3652A>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
RCV001935431 rs2131606216 | 1219 | S>G | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.421) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.135792102A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792102A>G Locations: - p.Ser1219Gly (Ensembl:ENST00000631073) - c.3655A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs376398883 | 1219 | S>I | Variant of uncertain significance (Ensembl) | ESP TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.841) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135792103G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792103G>T Locations: - p.Ser1219Ile (Ensembl:ENST00000631073) - c.3656G>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
RCV001218560 rs756986311 | 1219 | S>R | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated - low confidence (0.1) Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000009.12:g.135792104C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792104C>G Locations: - p.Ser1219Arg (Ensembl:ENST00000631073) - c.3657C>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
RCV001248725 RCV001773566 rs758465935 | 1220 | C>Y | Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.05) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135792106G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792106G>A Locations: - p.Cys1220Tyr (Ensembl:ENST00000631073) - c.3659G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1268081821 | 1221 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000009.12:g.135792108A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792108A>G Locations: - p.Ser1221Gly (Ensembl:ENST00000631073) - c.3661A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs780961075 | 1221 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.204) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.135792110C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792110C>G Locations: - p.Ser1221Arg (Ensembl:ENST00000631073) - c.3663C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs868847760 RCV001865066 RCV003482376 | 1222 | H>Q | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl) | TOPMed gnomAD ClinVar dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0.03) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135792113C>A, NC_000009.12:g.135792113C>G Codon: CAC/CAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792113C>A, NC_000009.12:g.135792113C>G Locations: - p.His1222Gln (Ensembl:ENST00000631073) - c.3666C>A (Ensembl:ENST00000631073) - c.3666C>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
rs1200375895 | 1222 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000009.12:g.135792111C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792111C>T Locations: - p.His1222Tyr (Ensembl:ENST00000631073) - c.3664C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs750010473 | 1223 | K>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135792114A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792114A>C Locations: - p.Lys1223Gln (Ensembl:ENST00000631073) - c.3667A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV001880830 rs1834585051 | 1223 | K>R | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.13) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000009.12:g.135792115A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792115A>G Locations: - p.Lys1223Arg (Ensembl:ENST00000631073) - c.3668A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
COSV99705700 COSV99706124 | 1224 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135792117C>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792117C>A Locations: - p.L1224M (NCI-TCGA:ENST00000631073) - p.Leu1224Met (cosmic curated:ENST00000631073) - c.3670C>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53700029 RCV001862088 RCV002318299 rs779379200 | 1225 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar, NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: deleterious - low confidence (0.03) Somatic: Yes Population frequencies: - MAF: 0.00002493 (gnomAD) - MAF: 0.00005 (ClinVar) Accession: NC_000009.12:g.135792121C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792121C>T Locations: - p.S1225L (NCI-TCGA:ENST00000631073) - p.Ser1225Leu (Ensembl:ENST00000631073) - c.3674C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
CA5328016 RCV000650646 RCV002458134 RCV003330866 rs769083534 | 1226 | S>F | Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.428) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135792124C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792124C>T Locations: - p.Ser1226Phe (Ensembl:ENST00000631073) - c.3677C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
COSV99705719 rs1408592085 | 1226 | S>P | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.31) Somatic: Yes Accession: NC_000009.12:g.135792123T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792123T>C Locations: - p.Ser1226Pro (Ensembl:ENST00000631073) - c.3676T>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV106095309 | 1227 | C>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135792127G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135792127G>A Locations: - p.Cys1227Tyr (cosmic curated:ENST00000631073) - c.3680G>A (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1588423514 | 1228 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000009.12:g.135792130A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792130A>G Locations: - p.Asn1228Ser (Ensembl:ENST00000631073) - c.3683A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1588423514 | 1228 | N>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.135792130A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792130A>C Locations: - p.Asn1228Thr (Ensembl:ENST00000631073) - c.3683A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
COSV53707087 rs748571213 | 1229 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Population frequencies: - MAF: 0.000004144 (gnomAD) Accession: NC_000009.12:g.135792133C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792133C>T Locations: - p.P1229L (NCI-TCGA:ENST00000631073) - p.Pro1229Leu (Ensembl:ENST00000631073) - c.3686C>T (Ensembl:ENST00000631073) Source type: large scale study | |||||||
CA5328017 RCV000650642 RCV001092461 RCV002270928 RCV002270929 RCV003352971 rs779262121 | 1229 | P>S | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.213) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000009.12:g.135792132C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792132C>T Locations: - p.Pro1229Ser (Ensembl:ENST00000631073) - c.3685C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases Source type: large scale study | |||||||
rs574776706 | 1230 | E>A | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.134) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000009.12:g.135792136A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792136A>C Locations: - p.Glu1230Ala (Ensembl:ENST00000631073) - c.3689A>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs574776706 | 1230 | E>G | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.25) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000009.12:g.135792136A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792136A>G Locations: - p.Glu1230Gly (Ensembl:ENST00000631073) - c.3689A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5328020 RCV000867035 RCV001704627 RCV002270574 RCV002270575 RCV002455927 RCV003962341 rs144679713 | 1230 | E>K | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) KCNT1-related disorder (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.00019 (ClinVar) Accession: NC_000009.12:g.135792135G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792135G>A Locations: - p.Glu1230Lys (Ensembl:ENST00000631073) - c.3688G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases - KCNT1-related disorder Source type: large scale study | |||||||
CA5328021 RCV000514013 RCV001085417 RCV002270253 RCV002270254 RCV002314149 RCV003912620 rs74533482 | 1231 | T>A | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) KCNT1-related disorder (ClinVar) Inborn genetic diseases (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.0004 (ClinVar) - MAF: 0.000392465 (1000Genomes) Accession: NC_000009.12:g.135792138A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792138A>G Locations: - p.Thr1231Ala (Ensembl:ENST00000631073) - c.3691A>G (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - Inborn genetic diseases - KCNT1-related disorder Source type: large scale study | |||||||
rs1344122297 | 1231 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.274) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135792139C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792139C>T Locations: - p.Thr1231Ile (Ensembl:ENST00000631073) - c.3692C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
RCV000694266 rs771068120 | 1232 | R>C | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000009.12:g.135792141C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792141C>T Locations: - p.Arg1232Cys (Ensembl:ENST00000631073) - c.3694C>T (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study Cross-references: | |||||||
CA5328023 COSV104375594 RCV000699529 RCV001712482 RCV002270621 RCV002270622 rs776538404 | 1232 | R>H | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000009.12:g.135792142G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792142G>A Locations: - p.Arg1232His (Ensembl:ENST00000631073) - c.3695G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs776538404 | 1232 | R>P | Benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135792142G>C Codon: CGC/CCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792142G>C Locations: - p.Arg1232Pro (Ensembl:ENST00000631073) - c.3695G>C (Ensembl:ENST00000631073) Source type: large scale study | |||||||
COSV53700370 | 1233 | D>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135792145A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135792145A>G Locations: - p.Asp1233Gly (cosmic curated:ENST00000631073) - c.3698A>G (cosmic curated:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5328025 RCV000416241 RCV000766050 RCV002270245 RCV002270246 rs146193090 | 1233 | D>N | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.389) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135792144G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792144G>A Locations: - p.Asp1233Asn (Ensembl:ENST00000631073) - c.3697G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study | |||||||
rs1188857264 | 1234 | E>D | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.854) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135792149G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792149G>C Locations: - p.Glu1234Asp (Ensembl:ENST00000631073) - c.3702G>C (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA5328027 COSV105045327 RCV000431889 RCV001083596 RCV002270255 RCV002270256 RCV003932561 rs138109494 | 1234 | E>K | Autosomal dominant nocturnal frontal lobe epilepsy 5 (ClinVar) KCNT1-related disorder (ClinVar) Developmental and epileptic encephalopathy, 14 (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.207) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Population frequencies: - MAF: 0.0008 (ClinVar) Accession: NC_000009.12:g.135792147G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792147G>A Locations: - p.Glu1234Lys (Ensembl:ENST00000631073) - c.3700G>A (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) - KCNT1-related disorder Source type: large scale study Cross-references: | |||||||
RCV001756991 rs767191241 | 1235 | T>A | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135792150A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792150A>G Locations: - p.Thr1235Ala (Ensembl:ENST00000631073) - c.3703A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs767191241 | 1235 | T>P | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.568) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135792150A>C Codon: ACA/CCA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792150A>C Locations: - p.Thr1235Pro (Ensembl:ENST00000631073) - c.3703A>C (Ensembl:ENST00000631073) Source type: large scale study | |||||||
rs1442325762 | 1235 | T>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.568) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135792151C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792151C>G Locations: - p.Thr1235Arg (Ensembl:ENST00000631073) - c.3704C>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1369367033 | 1236 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135792153C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792153C>T Locations: - p.Gln1236Ter (Ensembl:ENST00000631073) - c.3706C>T (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
rs1257981244 | 1236 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.277) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.135792154A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792154A>G Locations: - p.Gln1236Arg (Ensembl:ENST00000631073) - c.3707A>G (Ensembl:ENST00000631073) Source type: large scale study Cross-references: | |||||||
CA375494568 RCV000650628 RCV003432696 rs1459930316 | 1238 | *>C | Developmental and epileptic encephalopathy, 14 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar TOPMed dbSNP gnomAD | ||
Consequence: stop lost Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000009.12:g.135792161A>C Codon: TGA/TGC Consequence type: stop lost Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135792161A>C Locations: - p.Ter1238CysextTer30 (Ensembl:ENST00000631073) - c.3714A>C (Ensembl:ENST00000631073) Disease association: - Autosomal dominant nocturnal frontal lobe epilepsy 5 - Developmental and epileptic encephalopathy, 14 (DEE14) Source type: large scale study |