Q9UBB6 · NCDN_HUMAN
- ProteinNeurochondrin
- GeneNCDN
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids729 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV57849078 TCGA novel COSV100356893 | 1 | M>? | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | cosmic curated NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000001.11:g.35558193G>T, NC_000001.11:g.35558192T>C, NC_000001.11:g.35558191A>G Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35558193G>T, NC_000001.11:g.35558192T>C, NC_000001.11:g.35558191A>G Locations: - p.Met1? (cosmic curated:ENST00000356090) - c.3G>T (cosmic curated:ENST00000356090) - c.2T>C (NCI-TCGA:ENST00000356090) - p.M1? (NCI-TCGA:ENST00000356090) - c.1A>G (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1389908922 | 2 | S>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.316) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000001.11:g.35558195C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35558195C>T Locations: - p.Ser2Leu (Ensembl:ENST00000373243) - c.5C>T (Ensembl:ENST00000373243) - p.Ser2Leu (Ensembl:ENST00000356090) - c.5C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1291729205 | 2 | S>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.316) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000001.11:g.35558194T>C Codon: TCG/CCG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35558194T>C Locations: - p.Ser2Pro (Ensembl:ENST00000373243) - c.4T>C (Ensembl:ENST00000373243) - p.Ser2Pro (Ensembl:ENST00000356090) - c.4T>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57841681 | 3 | C>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35558198G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35558198G>T Locations: - p.Cys3Phe (cosmic curated:ENST00000356090) - c.8G>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648443789 | 3 | C>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.158) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.35558198G>C Codon: TGT/TCT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35558198G>C Locations: - p.Cys3Ser (Ensembl:ENST00000373243) - c.8G>C (Ensembl:ENST00000373243) - p.Cys3Ser (Ensembl:ENST00000356090) - c.8G>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648444231 | 4 | C>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.394) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000001.11:g.35558200T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35558200T>C Locations: - p.Cys4Arg (Ensembl:ENST00000373243) - c.10T>C (Ensembl:ENST00000373243) - p.Cys4Arg (Ensembl:ENST00000356090) - c.10T>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648445130 | 4 | C>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.394) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000001.11:g.35558201G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35558201G>A Locations: - p.Cys4Tyr (Ensembl:ENST00000373243) - c.11G>A (Ensembl:ENST00000373243) - p.Cys4Tyr (Ensembl:ENST00000356090) - c.11G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1303096914 | 5 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.55) - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000001.11:g.35558204A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35558204A>G Locations: - p.Asp5Gly (Ensembl:ENST00000373243) - c.14A>G (Ensembl:ENST00000373243) - p.Asp5Gly (Ensembl:ENST00000356090) - c.14A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57850657 rs1648446025 | 5 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.55) - SIFT: tolerated - low confidence (0.32) Somatic: Yes Accession: NC_000001.11:g.35558203G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35558203G>A Locations: - p.D5N (NCI-TCGA:ENST00000373243) - p.D5N (NCI-TCGA:ENST00000356090) - p.Asp5Asn (Ensembl:ENST00000373243) - c.13G>A (Ensembl:ENST00000373243) - p.Asp5Asn (Ensembl:ENST00000356090) - c.13G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 5 | D>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.804) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.35558204A>T Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35558204A>T Locations: - c.14A>T (NCI-TCGA:ENST00000356090) - p.D5V (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs762041149 | 6 | L>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.774) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000001.11:g.35558207T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35558207T>C Locations: - p.Leu6Pro (Ensembl:ENST00000373243) - c.17T>C (Ensembl:ENST00000373243) - p.Leu6Pro (Ensembl:ENST00000356090) - c.17T>C (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs1288547193 | 7 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: tolerated - low confidence (0.87) Somatic: No Accession: NC_000001.11:g.35558210C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35558210C>T Locations: - p.Ala7Val (Ensembl:ENST00000373243) - c.20C>T (Ensembl:ENST00000373243) - p.Ala7Val (Ensembl:ENST00000356090) - c.20C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57849225 rs868484453 | 8 | A>V | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.03) Somatic: Yes Accession: NC_000001.11:g.35558213C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35558213C>T Locations: - p.Ala8Val (Ensembl:ENST00000373243) - c.23C>T (Ensembl:ENST00000373243) - p.Ala8Val (Ensembl:ENST00000356090) - c.23C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs763338837 | 9 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000001.11:g.35558215G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35558215G>A Locations: - p.Ala9Thr (Ensembl:ENST00000373243) - c.25G>A (Ensembl:ENST00000373243) - p.Ala9Thr (Ensembl:ENST00000356090) - c.25G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs147742248 | 9 | A>V | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: tolerated - low confidence (0.11) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000001.11:g.35558216C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35558216C>T Locations: - p.Ala9Val (Ensembl:ENST00000373243) - c.26C>T (Ensembl:ENST00000373243) - p.Ala9Val (Ensembl:ENST00000356090) - c.26C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs751169285 | 10 | G>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000001.11:g.35558219G>C Codon: GGA/GCA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35558219G>C Locations: - p.Gly10Ala (Ensembl:ENST00000373243) - c.29G>C (Ensembl:ENST00000373243) - p.Gly10Ala (Ensembl:ENST00000356090) - c.29G>C (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV104634331 | 10 | G>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35558218G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35558218G>A Locations: - p.Gly10Arg (cosmic curated:ENST00000356090) - c.28G>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100357772 | 12 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35559109G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35559109G>T Locations: - p.Leu12Phe (cosmic curated:ENST00000356090) - c.36G>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648584135 | 12 | L>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.675) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.35559107T>A Codon: TTG/ATG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559107T>A Locations: - p.Leu12Met (Ensembl:ENST00000373243) - c.34T>A (Ensembl:ENST00000373243) - p.Leu12Met (Ensembl:ENST00000356090) - c.34T>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs2148536241 | 12 | L>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.598) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.35559108T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559108T>C Locations: - p.Leu12Ser (Ensembl:ENST00000373243) - c.35T>C (Ensembl:ENST00000373243) - p.Leu12Ser (Ensembl:ENST00000356090) - c.35T>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs781524202 | 13 | G>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000001.11:g.35559111G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559111G>A Locations: - p.Gly13Asp (Ensembl:ENST00000373243) - c.38G>A (Ensembl:ENST00000373243) - p.Gly13Asp (Ensembl:ENST00000356090) - c.38G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs756162956 | 15 | A>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.598) - SIFT: tolerated - low confidence (0.43) Somatic: No Accession: NC_000001.11:g.35559117C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559117C>A Locations: - p.Ala15Glu (Ensembl:ENST00000373243) - c.44C>A (Ensembl:ENST00000373243) - p.Ala15Glu (Ensembl:ENST00000356090) - c.44C>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs756162956 | 15 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.374) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000001.11:g.35559117C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559117C>G Locations: - p.Ala15Gly (Ensembl:ENST00000373243) - c.44C>G (Ensembl:ENST00000373243) - p.Ala15Gly (Ensembl:ENST00000356090) - c.44C>G (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs748404634 | 15 | A>S | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.374) - SIFT: tolerated - low confidence (0.34) Somatic: No Accession: NC_000001.11:g.35559116G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559116G>T Locations: - p.Ala15Ser (Ensembl:ENST00000373243) - c.43G>T (Ensembl:ENST00000373243) - p.Ala15Ser (Ensembl:ENST00000356090) - c.43G>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs756162956 | 15 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: tolerated - low confidence (0.96) Somatic: No Accession: NC_000001.11:g.35559117C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559117C>T Locations: - p.Ala15Val (Ensembl:ENST00000373243) - c.44C>T (Ensembl:ENST00000373243) - p.Ala15Val (Ensembl:ENST00000356090) - c.44C>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV57841718 rs749454935 | 16 | S>G | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: Yes Accession: NC_000001.11:g.35559119A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559119A>G Locations: - p.Ser16Gly (Ensembl:ENST00000373243) - c.46A>G (Ensembl:ENST00000373243) - p.Ser16Gly (Ensembl:ENST00000356090) - c.46A>G (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV105214355 | 16 | S>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35559120G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35559120G>A Locations: - p.Ser16Asn (cosmic curated:ENST00000356090) - c.47G>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs771332981 | 16 | S>R | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000001.11:g.35559121C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559121C>A Locations: - p.Ser16Arg (Ensembl:ENST00000373243) - c.48C>A (Ensembl:ENST00000373243) - p.Ser16Arg (Ensembl:ENST00000356090) - c.48C>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs749454935 | 16 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000001.11:g.35559119A>C Codon: AGC/CGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559119A>C Locations: - p.Ser16Arg (Ensembl:ENST00000373243) - c.46A>C (Ensembl:ENST00000373243) - p.Ser16Arg (Ensembl:ENST00000356090) - c.46A>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57851389 | 18 | M>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000001.11:g.35559125A>T Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559125A>T Locations: - p.M18L (NCI-TCGA:ENST00000356090) - p.Met18Leu (cosmic curated:ENST00000356090) - c.52A>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57844818 | 19 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35559128G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35559128G>A Locations: - p.Ala19Thr (cosmic curated:ENST00000356090) - c.55G>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 21 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.811) - SIFT: tolerated - low confidence (0.48) Somatic: No Accession: NC_000001.11:g.35559134G>A Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559134G>A Locations: - c.61G>A (NCI-TCGA:ENST00000356090) - p.D21N (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1234383748 | 22 | C>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.318) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000001.11:g.35559138G>T Codon: TGC/TTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559138G>T Locations: - p.Cys22Phe (Ensembl:ENST00000373243) - c.65G>T (Ensembl:ENST00000373243) - p.Cys22Phe (Ensembl:ENST00000356090) - c.65G>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs772444183 | 23 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.301) - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000001.11:g.35559140G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559140G>A Locations: - p.Glu23Lys (Ensembl:ENST00000373243) - c.67G>A (Ensembl:ENST00000373243) - p.Glu23Lys (Ensembl:ENST00000356090) - c.67G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs772444183 | 23 | E>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.413) - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000001.11:g.35559140G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559140G>C Locations: - p.Glu23Gln (Ensembl:ENST00000373243) - c.67G>C (Ensembl:ENST00000373243) - p.Glu23Gln (Ensembl:ENST00000356090) - c.67G>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648588765 | 24 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.722) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000001.11:g.35559144C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559144C>T Locations: - p.Pro24Leu (Ensembl:ENST00000373243) - c.71C>T (Ensembl:ENST00000373243) - p.Pro24Leu (Ensembl:ENST00000356090) - c.71C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1278157466 | 24 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.65) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000001.11:g.35559143C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559143C>A Locations: - p.Pro24Thr (Ensembl:ENST00000373243) - c.70C>A (Ensembl:ENST00000373243) - p.Pro24Thr (Ensembl:ENST00000356090) - c.70C>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs960208618 | 25 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: tolerated - low confidence (0.36) Somatic: No Accession: NC_000001.11:g.35559146G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559146G>A Locations: - p.Ala25Thr (Ensembl:ENST00000373243) - c.73G>A (Ensembl:ENST00000373243) - p.Ala25Thr (Ensembl:ENST00000356090) - c.73G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs775062404 | 25 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000001.11:g.35559147C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559147C>T Locations: - p.Ala25Val (Ensembl:ENST00000373243) - c.74C>T (Ensembl:ENST00000373243) - p.Ala25Val (Ensembl:ENST00000356090) - c.74C>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs760336759 | 26 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.774) - SIFT: tolerated - low confidence (0.28) Somatic: No Accession: NC_000001.11:g.35559150T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559150T>C Locations: - p.Leu26Pro (Ensembl:ENST00000373243) - c.77T>C (Ensembl:ENST00000373243) - p.Leu26Pro (Ensembl:ENST00000356090) - c.77T>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1274228265 | 28 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.224) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000001.11:g.35559157G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559157G>C Locations: - p.Gln28His (Ensembl:ENST00000373243) - c.84G>C (Ensembl:ENST00000373243) - p.Gln28His (Ensembl:ENST00000356090) - c.84G>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs763867318 | 30 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000001.11:g.35559163G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559163G>T Locations: - p.Glu30Asp (Ensembl:ENST00000373243) - c.90G>T (Ensembl:ENST00000373243) - p.Glu30Asp (Ensembl:ENST00000356090) - c.90G>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV57842897 | 30 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.171) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000001.11:g.35559161G>A Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559161G>A Locations: - p.E30K (NCI-TCGA:ENST00000356090) - p.Glu30Lys (cosmic curated:ENST00000356090) - c.88G>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57843324 rs148946641 | 31 | G>S | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.84) Somatic: Yes Accession: NC_000001.11:g.35559164G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559164G>A Locations: - p.Gly31Ser (Ensembl:ENST00000373243) - c.91G>A (Ensembl:ENST00000373243) - p.Gly31Ser (Ensembl:ENST00000356090) - c.91G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1208285626 | 32 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000001.11:g.35559167C>G Codon: CGA/GGA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559167C>G Locations: - p.Arg32Gly (Ensembl:ENST00000373243) - c.94C>G (Ensembl:ENST00000373243) - p.Arg32Gly (Ensembl:ENST00000356090) - c.94C>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57842560 rs761426994 | 32 | R>Q | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.54) Somatic: Yes Accession: NC_000001.11:g.35559168G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559168G>A Locations: - p.Arg32Gln (Ensembl:ENST00000373243) - c.95G>A (Ensembl:ENST00000373243) - p.Arg32Gln (Ensembl:ENST00000356090) - c.95G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100356968 | 34 | P>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35559174C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35559174C>A Locations: - p.Pro34His (cosmic curated:ENST00000356090) - c.101C>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648593040 | 35 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.835) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000001.11:g.35559176A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559176A>C Locations: - p.Thr35Pro (Ensembl:ENST00000373243) - c.103A>C (Ensembl:ENST00000373243) - p.Thr35Pro (Ensembl:ENST00000356090) - c.103A>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 36 | L>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35559180T>C Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559180T>C Locations: - c.107T>C (NCI-TCGA:ENST00000356090) - p.L36P (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1648593686 | 36 | L>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35559180T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559180T>A Locations: - p.Leu36Gln (Ensembl:ENST00000373243) - c.107T>A (Ensembl:ENST00000373243) - p.Leu36Gln (Ensembl:ENST00000356090) - c.107T>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs765064451 | 37 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.111) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000001.11:g.35559184G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559184G>C Locations: - p.Glu37Asp (Ensembl:ENST00000373243) - c.111G>C (Ensembl:ENST00000373243) - p.Glu37Asp (Ensembl:ENST00000356090) - c.111G>C (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV100357748 COSV57850664 | 37 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: tolerated (0.24) Somatic: Yes Accession: NC_000001.11:g.35559182G>A Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559182G>A Locations: - p.E37K (NCI-TCGA:ENST00000356090) - p.Glu37Lys (cosmic curated:ENST00000356090) - c.109G>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100357748 COSV57850664 | 37 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.232) - SIFT: tolerated (0.16) Somatic: Yes Accession: NC_000001.11:g.35559182G>C Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559182G>C Locations: - p.E37Q (NCI-TCGA:ENST00000356090) - p.Glu37Gln (cosmic curated:ENST00000356090) - c.109G>C (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57845382 | 38 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.848) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000001.11:g.35559185C>T Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559185C>T Locations: - p.R38C (NCI-TCGA:ENST00000356090) - p.Arg38Cys (cosmic curated:ENST00000356090) - c.112C>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57845878 rs750407823 | 38 | R>H | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.846) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000001.11:g.35559186G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559186G>A Locations: - p.Arg38His (Ensembl:ENST00000373243) - c.113G>A (Ensembl:ENST00000373243) - p.Arg38His (Ensembl:ENST00000356090) - c.113G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57847359 | 39 | Y>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35559189A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35559189A>C Locations: - p.Tyr39Ser (cosmic curated:ENST00000356090) - c.116A>C (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57848707 | 41 | G>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35559195G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35559195G>A Locations: - p.Gly41Glu (cosmic curated:ENST00000356090) - c.122G>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1448783685 | 42 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (1) Somatic: No Accession: NC_000001.11:g.35559198C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559198C>T Locations: - p.Ala42Val (Ensembl:ENST00000373243) - c.125C>T (Ensembl:ENST00000373243) - p.Ala42Val (Ensembl:ENST00000356090) - c.125C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57847995 rs1474420854 | 44 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000001.11:g.35559203C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559203C>T Locations: - p.R44C (NCI-TCGA:ENST00000373243) - p.R44C (NCI-TCGA:ENST00000356090) - p.Arg44Cys (Ensembl:ENST00000373243) - c.130C>T (Ensembl:ENST00000373243) - p.Arg44Cys (Ensembl:ENST00000356090) - c.130C>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV57846149 rs758226457 | 44 | R>H | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.884) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000001.11:g.35559204G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559204G>A Locations: - p.Arg44His (Ensembl:ENST00000373243) - c.131G>A (Ensembl:ENST00000373243) - p.Arg44His (Ensembl:ENST00000356090) - c.131G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV57845670 | 45 | E>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35559207A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35559207A>T Locations: - p.Glu45Val (cosmic curated:ENST00000356090) - c.134A>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1420018670 | 51 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35559224G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559224G>A Locations: - p.Glu51Lys (Ensembl:ENST00000373243) - c.151G>A (Ensembl:ENST00000373243) - p.Glu51Lys (Ensembl:ENST00000356090) - c.151G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs752907887 | 52 | Q>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.59) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.35559227C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35559227C>G Locations: - p.Gln52Glu (Ensembl:ENST00000373243) - c.154C>G (Ensembl:ENST00000373243) - p.Gln52Glu (Ensembl:ENST00000356090) - c.154C>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648652033 | 61 | K>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.59) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560332A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560332A>C Locations: - p.Lys61Gln (Ensembl:ENST00000373243) - c.181A>C (Ensembl:ENST00000373243) - p.Lys61Gln (Ensembl:ENST00000356090) - c.181A>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1346447176 | 62 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: tolerated (0.79) Somatic: No Accession: NC_000001.11:g.35560336C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560336C>T Locations: - p.Ala62Val (Ensembl:ENST00000373243) - c.185C>T (Ensembl:ENST00000373243) - p.Ala62Val (Ensembl:ENST00000356090) - c.185C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1286644314 | 65 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000001.11:g.35560345C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560345C>G Locations: - p.Ala65Gly (Ensembl:ENST00000373243) - c.194C>G (Ensembl:ENST00000373243) - p.Ala65Gly (Ensembl:ENST00000356090) - c.194C>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1404505586 | 67 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000001.11:g.35560352C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560352C>A Locations: - p.Asp67Glu (Ensembl:ENST00000373243) - c.201C>A (Ensembl:ENST00000373243) - p.Asp67Glu (Ensembl:ENST00000356090) - c.201C>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs764196052 | 68 | I>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.88) Somatic: No Accession: NC_000001.11:g.35560353A>C Codon: ATA/CTA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560353A>C Locations: - p.Ile68Leu (Ensembl:ENST00000373243) - c.202A>C (Ensembl:ENST00000373243) - p.Ile68Leu (Ensembl:ENST00000356090) - c.202A>C (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs1415500026 | 68 | I>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.067) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000001.11:g.35560354T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560354T>C Locations: - p.Ile68Thr (Ensembl:ENST00000373243) - c.203T>C (Ensembl:ENST00000373243) - p.Ile68Thr (Ensembl:ENST00000356090) - c.203T>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs764196052 | 68 | I>V | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (1) Somatic: No Accession: NC_000001.11:g.35560353A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560353A>G Locations: - p.Ile68Val (Ensembl:ENST00000373243) - c.202A>G (Ensembl:ENST00000373243) - p.Ile68Val (Ensembl:ENST00000356090) - c.202A>G (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs1449790107 | 71 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.375) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000001.11:g.35560364A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560364A>T Locations: - p.Lys71Asn (Ensembl:ENST00000373243) - c.213A>T (Ensembl:ENST00000373243) - p.Lys71Asn (Ensembl:ENST00000356090) - c.213A>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 72 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.147) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000001.11:g.35560366C>T Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560366C>T Locations: - c.215C>T (NCI-TCGA:ENST00000356090) - p.T72I (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
RCV002246199 rs2148537359 | 73 | R>missing | Neurodevelopmental disorder with infantile epileptic spasms (ClinVar) | Likely pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.35560367dup Consequence type: frameshift Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560367dup Locations: - p.Arg73fs (ClinVar:ENST00000373243) Disease association: - Neurodevelopmental disorder with infantile epileptic spasms Source type: large scale study Cross-references: | |||||||
rs757221696 | 73 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.946) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560369G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560369G>C Locations: - p.Arg73Pro (Ensembl:ENST00000373243) - c.218G>C (Ensembl:ENST00000373243) - p.Arg73Pro (Ensembl:ENST00000356090) - c.218G>C (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV100357388 rs757221696 | 73 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.921) - SIFT: deleterious (0.01) Somatic: Yes Population frequencies: - MAF: 0.00001592 (gnomAD) Accession: NC_000001.11:g.35560369G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560369G>A Locations: - p.R73Q (NCI-TCGA:ENST00000373243) - p.R73Q (NCI-TCGA:ENST00000356090) - p.Arg73Gln (Ensembl:ENST00000373243) - c.218G>A (Ensembl:ENST00000373243) - p.Arg73Gln (Ensembl:ENST00000356090) - c.218G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV100357676 rs1648653073 | 73 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000001.11:g.35560368C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560368C>T Locations: - p.R73W (NCI-TCGA:ENST00000373243) - p.R73W (NCI-TCGA:ENST00000356090) - p.Arg73Trp (Ensembl:ENST00000373243) - c.217C>T (Ensembl:ENST00000373243) - p.Arg73Trp (Ensembl:ENST00000356090) - c.217C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57847259 rs780581013 | 74 | R>Q | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.536) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000001.11:g.35560372G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560372G>A Locations: - p.Arg74Gln (Ensembl:ENST00000373243) - c.221G>A (Ensembl:ENST00000373243) - p.Arg74Gln (Ensembl:ENST00000356090) - c.221G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs372061474 | 74 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000007961 (gnomAD) Accession: NC_000001.11:g.35560371C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560371C>T Locations: - p.R74W (NCI-TCGA:ENST00000373243) - p.R74W (NCI-TCGA:ENST00000356090) - p.Arg74Trp (Ensembl:ENST00000373243) - c.220C>T (Ensembl:ENST00000373243) - p.Arg74Trp (Ensembl:ENST00000356090) - c.220C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57844209 rs769088241 | 75 | R>Q | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.096) - SIFT: tolerated (0.76) Somatic: Yes Accession: NC_000001.11:g.35560375G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560375G>A Locations: - p.Arg75Gln (Ensembl:ENST00000373243) - c.224G>A (Ensembl:ENST00000373243) - p.Arg75Gln (Ensembl:ENST00000356090) - c.224G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648654234 | 78 | D>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.825) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560384A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560384A>G Locations: - p.Asp78Gly (Ensembl:ENST00000373243) - c.233A>G (Ensembl:ENST00000373243) - p.Asp78Gly (Ensembl:ENST00000356090) - c.233A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57845467 | 78 | D>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.673) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000001.11:g.35560383G>C Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560383G>C Locations: - p.D78H (NCI-TCGA:ENST00000356090) - p.Asp78His (cosmic curated:ENST00000356090) - c.232G>C (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs750269785 | 78 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.22) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000001.11:g.35560383G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560383G>A Locations: - p.Asp78Asn (Ensembl:ENST00000373243) - c.232G>A (Ensembl:ENST00000373243) - p.Asp78Asn (Ensembl:ENST00000356090) - c.232G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57845910 | 79 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000001.11:g.35560386G>T Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560386G>T Locations: - p.A79S (NCI-TCGA:ENST00000356090) - p.Ala79Ser (cosmic curated:ENST00000356090) - c.235G>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs778725372 | 80 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: tolerated (0.89) Somatic: No Accession: NC_000001.11:g.35560389G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560389G>A Locations: - p.Val80Ile (Ensembl:ENST00000373243) - c.238G>A (Ensembl:ENST00000373243) - p.Val80Ile (Ensembl:ENST00000356090) - c.238G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs778725372 | 80 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.312) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.35560389G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560389G>C Locations: - p.Val80Leu (Ensembl:ENST00000373243) - c.238G>C (Ensembl:ENST00000373243) - p.Val80Leu (Ensembl:ENST00000356090) - c.238G>C (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV57843130 rs1648654816 | 81 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000001.11:g.35560392G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560392G>A Locations: - p.G81S (NCI-TCGA:ENST00000373243) - p.G81S (NCI-TCGA:ENST00000356090) - p.Gly81Ser (Ensembl:ENST00000373243) - c.241G>A (Ensembl:ENST00000373243) - p.Gly81Ser (Ensembl:ENST00000356090) - c.241G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1445271199 | 83 | T>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000001.11:g.35560398A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560398A>T Locations: - p.Thr83Ser (Ensembl:ENST00000373243) - c.247A>T (Ensembl:ENST00000373243) - p.Thr83Ser (Ensembl:ENST00000356090) - c.247A>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57847500 | 86 | N>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35560407A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35560407A>G Locations: - p.Asn86Asp (cosmic curated:ENST00000356090) - c.256A>G (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648655498 | 86 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000001.11:g.35560408A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560408A>G Locations: - p.Asn86Ser (Ensembl:ENST00000373243) - c.257A>G (Ensembl:ENST00000373243) - p.Asn86Ser (Ensembl:ENST00000356090) - c.257A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57843300 | 87 | R>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35560410C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35560410C>T Locations: - p.Arg87Cys (cosmic curated:ENST00000356090) - c.259C>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
RCV001808124 rs2148537420 | 87 | R>S | Neurodevelopmental disorder with infantile epileptic spasms (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560410C>A Codon: CGT/AGT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560410C>A Locations: - p.Arg87Ser (Ensembl:ENST00000373243) - c.259C>A (Ensembl:ENST00000373243) - p.Arg87Ser (Ensembl:ENST00000356090) - c.259C>A (Ensembl:ENST00000356090) Disease association: - Neurodevelopmental disorder with infantile epileptic spasms Source type: large scale study | |||||||
COSV57847753 | 88 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35560413C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35560413C>T Locations: - p.Leu88Phe (cosmic curated:ENST00000356090) - c.262C>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1407098436 | 90 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000001.11:g.35560419A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560419A>G Locations: - p.Thr90Ala (Ensembl:ENST00000373243) - c.268A>G (Ensembl:ENST00000373243) - p.Thr90Ala (Ensembl:ENST00000356090) - c.268A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1407098436 | 90 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000001.11:g.35560419A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560419A>T Locations: - p.Thr90Ser (Ensembl:ENST00000373243) - c.268A>T (Ensembl:ENST00000373243) - p.Thr90Ser (Ensembl:ENST00000356090) - c.268A>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs936402414 | 90 | T>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000001.11:g.35560420C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560420C>G Locations: - p.Thr90Ser (Ensembl:ENST00000373243) - c.269C>G (Ensembl:ENST00000373243) - p.Thr90Ser (Ensembl:ENST00000356090) - c.269C>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1239943322 | 91 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.109) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.35560422A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560422A>G Locations: - p.Thr91Ala (Ensembl:ENST00000373243) - c.271A>G (Ensembl:ENST00000373243) - p.Thr91Ala (Ensembl:ENST00000356090) - c.271A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648656505 | 91 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.581) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560423C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560423C>T Locations: - p.Thr91Ile (Ensembl:ENST00000373243) - c.272C>T (Ensembl:ENST00000373243) - p.Thr91Ile (Ensembl:ENST00000356090) - c.272C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1379407673 | 92 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.92) Somatic: No Accession: NC_000001.11:g.35560426A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560426A>G Locations: - p.Lys92Arg (Ensembl:ENST00000373243) - c.275A>G (Ensembl:ENST00000373243) - p.Lys92Arg (Ensembl:ENST00000356090) - c.275A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57846751 rs753953315 | 94 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.23) Somatic: Yes Population frequencies: - MAF: 0.00001991 (gnomAD) Accession: NC_000001.11:g.35560432C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560432C>T Locations: - p.A94V (NCI-TCGA:ENST00000373243) - p.A94V (NCI-TCGA:ENST00000356090) - p.Ala94Val (Ensembl:ENST00000373243) - c.281C>T (Ensembl:ENST00000373243) - p.Ala94Val (Ensembl:ENST00000356090) - c.281C>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV105214358 rs1290454214 | 95 | P>L | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.916) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000001.11:g.35560435C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560435C>T Locations: - p.Pro95Leu (Ensembl:ENST00000373243) - c.284C>T (Ensembl:ENST00000373243) - p.Pro95Leu (Ensembl:ENST00000356090) - c.284C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1202732525 | 96 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000001.11:g.35560437G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560437G>A Locations: - p.Asp96Asn (Ensembl:ENST00000373243) - c.286G>A (Ensembl:ENST00000373243) - p.Asp96Asn (Ensembl:ENST00000356090) - c.286G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1250664157 | 96 | D>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.228) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000001.11:g.35560438A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560438A>T Locations: - p.Asp96Val (Ensembl:ENST00000373243) - c.287A>T (Ensembl:ENST00000373243) - p.Asp96Val (Ensembl:ENST00000356090) - c.287A>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs750473844 | 100 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000001.11:g.35560451C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560451C>G Locations: - p.Asp100Glu (Ensembl:ENST00000373243) - c.300C>G (Ensembl:ENST00000373243) - p.Asp100Glu (Ensembl:ENST00000356090) - c.300C>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57847872 | 101 | H>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35560453A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35560453A>G Locations: - p.His101Arg (cosmic curated:ENST00000356090) - c.302A>G (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648657557 | 101 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.834) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000001.11:g.35560452C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560452C>T Locations: - p.His101Tyr (Ensembl:ENST00000373243) - c.301C>T (Ensembl:ENST00000373243) - p.His101Tyr (Ensembl:ENST00000356090) - c.301C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs752138615 | 104 | R>Q | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000001.11:g.35560462G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560462G>A Locations: - p.Arg104Gln (Ensembl:ENST00000373243) - c.311G>A (Ensembl:ENST00000373243) - p.Arg104Gln (Ensembl:ENST00000356090) - c.311G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs1010501797 | 104 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.964) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560461C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560461C>T Locations: - p.Arg104Trp (Ensembl:ENST00000373243) - c.310C>T (Ensembl:ENST00000373243) - p.Arg104Trp (Ensembl:ENST00000356090) - c.310C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs781629376 | 107 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.959) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.35560470G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560470G>A Locations: - p.Gly107Ser (Ensembl:ENST00000373243) - c.319G>A (Ensembl:ENST00000373243) - p.Gly107Ser (Ensembl:ENST00000356090) - c.319G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs267598577 | 108 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.459) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560474T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560474T>G Locations: - p.Val108Gly (Ensembl:ENST00000373243) - c.323T>G (Ensembl:ENST00000373243) - p.Val108Gly (Ensembl:ENST00000356090) - c.323T>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648658587 | 109 | A>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.785) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560476G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560476G>C Locations: - p.Ala109Pro (Ensembl:ENST00000373243) - c.325G>C (Ensembl:ENST00000373243) - p.Ala109Pro (Ensembl:ENST00000356090) - c.325G>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57850286 | 112 | A>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35560485G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35560485G>T Locations: - p.Ala112Ser (cosmic curated:ENST00000356090) - c.334G>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1409347694 | 115 | C>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560495G>T Codon: TGC/TTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560495G>T Locations: - p.Cys115Phe (Ensembl:ENST00000373243) - c.344G>T (Ensembl:ENST00000373243) - p.Cys115Phe (Ensembl:ENST00000356090) - c.344G>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 115 | C>L | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.35560490_35560491insT Consequence type: frameshift Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560490_35560491insT Locations: - c.341dup (NCI-TCGA:ENST00000356090) - p.C115Lfs*3 (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1370253575 | 115 | C>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.099) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000001.11:g.35560494T>A Codon: TGC/AGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560494T>A Locations: - p.Cys115Ser (Ensembl:ENST00000373243) - c.343T>A (Ensembl:ENST00000373243) - p.Cys115Ser (Ensembl:ENST00000356090) - c.343T>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs769563841 | 116 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.357) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560497A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560497A>G Locations: - p.Ser116Gly (Ensembl:ENST00000373243) - c.346A>G (Ensembl:ENST00000373243) - p.Ser116Gly (Ensembl:ENST00000356090) - c.346A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1331060628 | 116 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.357) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560498G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560498G>A Locations: - p.Ser116Asn (Ensembl:ENST00000373243) - c.347G>A (Ensembl:ENST00000373243) - p.Ser116Asn (Ensembl:ENST00000356090) - c.347G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57846341 | 117 | D>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35560502C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35560502C>G Locations: - p.Asp117Glu (cosmic curated:ENST00000356090) - c.351C>G (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1401975894 | 117 | D>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.706) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560501A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560501A>T Locations: - p.Asp117Val (Ensembl:ENST00000373243) - c.350A>T (Ensembl:ENST00000373243) - p.Asp117Val (Ensembl:ENST00000356090) - c.350A>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs777606415 | 118 | P>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.874) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000001.11:g.35560503C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560503C>G Locations: - p.Pro118Ala (Ensembl:ENST00000373243) - c.352C>G (Ensembl:ENST00000373243) - p.Pro118Ala (Ensembl:ENST00000356090) - c.352C>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV105214332 | 119 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35560506G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35560506G>A Locations: - p.Glu119Lys (cosmic curated:ENST00000356090) - c.355G>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1447323220 | 121 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560512G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560512G>A Locations: - p.Ala121Thr (Ensembl:ENST00000373243) - c.361G>A (Ensembl:ENST00000373243) - p.Ala121Thr (Ensembl:ENST00000356090) - c.361G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs770583774 | 122 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000001.11:g.35560515G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560515G>C Locations: - p.Ala122Pro (Ensembl:ENST00000373243) - c.364G>C (Ensembl:ENST00000373243) - p.Ala122Pro (Ensembl:ENST00000356090) - c.364G>C (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs770583774 | 122 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: tolerated (0.92) Somatic: No Accession: NC_000001.11:g.35560515G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560515G>T Locations: - p.Ala122Ser (Ensembl:ENST00000373243) - c.364G>T (Ensembl:ENST00000373243) - p.Ala122Ser (Ensembl:ENST00000356090) - c.364G>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs770583774 | 122 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.364) - SIFT: tolerated (0.61) Somatic: No Accession: NC_000001.11:g.35560515G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560515G>A Locations: - p.Ala122Thr (Ensembl:ENST00000373243) - c.364G>A (Ensembl:ENST00000373243) - p.Ala122Thr (Ensembl:ENST00000356090) - c.364G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV57848448 rs1648660456 | 122 | A>V | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: tolerated (0.26) Somatic: Yes Accession: NC_000001.11:g.35560516C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560516C>T Locations: - p.Ala122Val (Ensembl:ENST00000373243) - c.365C>T (Ensembl:ENST00000373243) - p.Ala122Val (Ensembl:ENST00000356090) - c.365C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs199589299 | 124 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.641) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000001.11:g.35560522C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560522C>T Locations: - p.Pro124Leu (Ensembl:ENST00000373243) - c.371C>T (Ensembl:ENST00000373243) - p.Pro124Leu (Ensembl:ENST00000356090) - c.371C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1273629300 | 124 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.059) - SIFT: tolerated (0.71) Somatic: No Accession: NC_000001.11:g.35560521C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560521C>T Locations: - p.Pro124Ser (Ensembl:ENST00000373243) - c.370C>T (Ensembl:ENST00000373243) - p.Pro124Ser (Ensembl:ENST00000356090) - c.370C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57843923 | 130 | I>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35560541T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35560541T>G Locations: - p.Ile130Met (cosmic curated:ENST00000356090) - c.390T>G (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57851858 | 131 | P>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35560542C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35560542C>G Locations: - p.Pro131Ala (cosmic curated:ENST00000356090) - c.391C>G (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100357691 | 133 | L>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35560548C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35560548C>A Locations: - p.Leu133Ile (cosmic curated:ENST00000356090) - c.397C>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648661295 | 134 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000001.11:g.35560551A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560551A>G Locations: - p.Ser134Gly (Ensembl:ENST00000373243) - c.400A>G (Ensembl:ENST00000373243) - p.Ser134Gly (Ensembl:ENST00000356090) - c.400A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648661397 | 134 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000001.11:g.35560552G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560552G>A Locations: - p.Ser134Asn (Ensembl:ENST00000373243) - c.401G>A (Ensembl:ENST00000373243) - p.Ser134Asn (Ensembl:ENST00000356090) - c.401G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1571083750 | 135 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000001.11:g.35560554A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560554A>G Locations: - p.Thr135Ala (Ensembl:ENST00000373243) - c.403A>G (Ensembl:ENST00000373243) - p.Thr135Ala (Ensembl:ENST00000356090) - c.403A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1571083750 | 135 | T>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.35560554A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560554A>C Locations: - p.Thr135Pro (Ensembl:ENST00000373243) - c.403A>C (Ensembl:ENST00000373243) - p.Thr135Pro (Ensembl:ENST00000356090) - c.403A>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1553236017 | 137 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560561T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560561T>C Locations: - p.Leu137Pro (Ensembl:ENST00000373243) - c.410T>C (Ensembl:ENST00000373243) - p.Leu137Pro (Ensembl:ENST00000356090) - c.410T>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV104634351 rs1187605552 | 138 | T>I | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: tolerated (0.28) Somatic: Yes Accession: NC_000001.11:g.35560564C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560564C>T Locations: - p.Thr138Ile (Ensembl:ENST00000373243) - c.413C>T (Ensembl:ENST00000373243) - p.Thr138Ile (Ensembl:ENST00000356090) - c.413C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs760428517 | 139 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000001.11:g.35560567C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560567C>G Locations: - p.Ala139Gly (Ensembl:ENST00000373243) - c.416C>G (Ensembl:ENST00000373243) - p.Ala139Gly (Ensembl:ENST00000356090) - c.416C>G (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs760428517 | 139 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000001.11:g.35560567C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560567C>T Locations: - p.Ala139Val (Ensembl:ENST00000373243) - c.416C>T (Ensembl:ENST00000373243) - p.Ala139Val (Ensembl:ENST00000356090) - c.416C>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
TCGA novel | 140 | R>P | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.35560566_35560567insC Consequence type: frameshift Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560566_35560567insC Locations: - c.418dup (NCI-TCGA:ENST00000356090) - p.R140Pfs*14 (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs200578072 | 140 | R>P | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000001.11:g.35560570G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560570G>C Locations: - p.Arg140Pro (Ensembl:ENST00000373243) - c.419G>C (Ensembl:ENST00000373243) - p.Arg140Pro (Ensembl:ENST00000356090) - c.419G>C (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs200578072 | 140 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.285) - SIFT: tolerated (0.26) Somatic: No Population frequencies: - MAF: 0.00006794 (gnomAD) Accession: NC_000001.11:g.35560570G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560570G>A Locations: - p.R140Q (NCI-TCGA:ENST00000373243) - p.R140Q (NCI-TCGA:ENST00000356090) - p.Arg140Gln (Ensembl:ENST00000373243) - c.419G>A (Ensembl:ENST00000373243) - p.Arg140Gln (Ensembl:ENST00000356090) - c.419G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1162062783 | 140 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.902) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.35560569C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560569C>T Locations: - p.Arg140Trp (Ensembl:ENST00000373243) - c.418C>T (Ensembl:ENST00000373243) - p.Arg140Trp (Ensembl:ENST00000356090) - c.418C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs977170049 | 142 | D>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000001.11:g.35560576A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560576A>C Locations: - p.Asp142Ala (Ensembl:ENST00000373243) - c.425A>C (Ensembl:ENST00000373243) - p.Asp142Ala (Ensembl:ENST00000356090) - c.425A>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs762979951 | 142 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000001.11:g.35560577C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560577C>A Locations: - p.Asp142Glu (Ensembl:ENST00000373243) - c.426C>A (Ensembl:ENST00000373243) - p.Asp142Glu (Ensembl:ENST00000356090) - c.426C>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV100357578 rs1028945097 | 142 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: tolerated (0.26) Somatic: Yes Population frequencies: - MAF: 0.000003996 (gnomAD) Accession: NC_000001.11:g.35560575G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560575G>A Locations: - p.D142N (NCI-TCGA:ENST00000373243) - p.D142N (NCI-TCGA:ENST00000356090) - p.Asp142Asn (Ensembl:ENST00000373243) - c.424G>A (Ensembl:ENST00000373243) - p.Asp142Asn (Ensembl:ENST00000356090) - c.424G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
TCGA novel | 142 | D>T | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.35560570del Consequence type: frameshift Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560570del Locations: - c.424del (NCI-TCGA:ENST00000356090) - p.D142Tfs*10 (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1028945097 | 142 | D>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.325) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560575G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560575G>T Locations: - p.Asp142Tyr (Ensembl:ENST00000373243) - c.424G>T (Ensembl:ENST00000373243) - p.Asp142Tyr (Ensembl:ENST00000356090) - c.424G>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs766451366 | 143 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.495) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000001.11:g.35560579C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560579C>T Locations: - p.Pro143Leu (Ensembl:ENST00000373243) - c.428C>T (Ensembl:ENST00000373243) - p.Pro143Leu (Ensembl:ENST00000356090) - c.428C>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs1648663153 | 144 | D>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.526) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.35560581G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560581G>T Locations: - p.Asp144Tyr (Ensembl:ENST00000373243) - c.430G>T (Ensembl:ENST00000373243) - p.Asp144Tyr (Ensembl:ENST00000356090) - c.430G>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1467895598 | 145 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000001.11:g.35560584G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560584G>A Locations: - p.Asp145Asn (Ensembl:ENST00000373243) - c.433G>A (Ensembl:ENST00000373243) - p.Asp145Asn (Ensembl:ENST00000356090) - c.433G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648663450 | 146 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (1) Somatic: No Accession: NC_000001.11:g.35560587G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560587G>A Locations: - p.Ala146Thr (Ensembl:ENST00000373243) - c.436G>A (Ensembl:ENST00000373243) - p.Ala146Thr (Ensembl:ENST00000356090) - c.436G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1384974926 | 147 | A>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.244) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000001.11:g.35560590G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560590G>C Locations: - p.Ala147Pro (Ensembl:ENST00000373243) - c.439G>C (Ensembl:ENST00000373243) - p.Ala147Pro (Ensembl:ENST00000356090) - c.439G>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1432821860 | 147 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.189) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000001.11:g.35560591C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560591C>T Locations: - p.Ala147Val (Ensembl:ENST00000373243) - c.440C>T (Ensembl:ENST00000373243) - p.Ala147Val (Ensembl:ENST00000356090) - c.440C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1296691386 | 148 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | 1000Genomes TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000001.11:g.35560593C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560593C>T Locations: - p.R148C (NCI-TCGA:ENST00000373243) - p.R148C (NCI-TCGA:ENST00000356090) - p.Arg148Cys (Ensembl:ENST00000373243) - c.442C>T (Ensembl:ENST00000373243) - p.Arg148Cys (Ensembl:ENST00000356090) - c.442C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57844623 COSV57851383 rs1326831347 | 148 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.55) Somatic: Yes Population frequencies: - MAF: 0.00001996 (gnomAD) Accession: NC_000001.11:g.35560594G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560594G>A Locations: - p.R148H (NCI-TCGA:ENST00000373243) - p.R148H (NCI-TCGA:ENST00000356090) - p.Arg148His (Ensembl:ENST00000373243) - c.443G>A (Ensembl:ENST00000373243) - p.Arg148His (Ensembl:ENST00000356090) - c.443G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV57851383 | 148 | R>P | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35560594G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35560594G>C Locations: - p.Arg148Pro (cosmic curated:ENST00000356090) - c.443G>C (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57850938 COSV57851480 rs767974563 | 149 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.692) - SIFT: tolerated (0.05) Somatic: Yes Population frequencies: - MAF: 0.00001596 (gnomAD) Accession: NC_000001.11:g.35560596C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560596C>T Locations: - p.R149C (NCI-TCGA:ENST00000373243) - p.R149C (NCI-TCGA:ENST00000356090) - p.Arg149Cys (Ensembl:ENST00000373243) - c.445C>T (Ensembl:ENST00000373243) - p.Arg149Cys (Ensembl:ENST00000356090) - c.445C>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs753072425 | 149 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000001.11:g.35560597G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560597G>A Locations: - p.Arg149His (Ensembl:ENST00000373243) - c.446G>A (Ensembl:ENST00000373243) - p.Arg149His (Ensembl:ENST00000356090) - c.446G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs753072425 | 149 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000001.11:g.35560597G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560597G>T Locations: - p.Arg149Leu (Ensembl:ENST00000373243) - c.446G>T (Ensembl:ENST00000373243) - p.Arg149Leu (Ensembl:ENST00000356090) - c.446G>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV57851480 | 149 | R>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35560596C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35560596C>A Locations: - p.Arg149Ser (cosmic curated:ENST00000356090) - c.445C>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100357432 | 150 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000001.11:g.35560600C>T Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560600C>T Locations: - p.S150F (NCI-TCGA:ENST00000356090) - p.Ser150Phe (cosmic curated:ENST00000356090) - c.449C>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57849313 | 152 | I>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35560606T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35560606T>A Locations: - p.Ile152Asn (cosmic curated:ENST00000356090) - c.455T>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57846074 | 154 | D>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35560611G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35560611G>A Locations: - p.Asp154Asn (cosmic curated:ENST00000356090) - c.460G>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1203818205 | 155 | T>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.329) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000001.11:g.35560614A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560614A>C Locations: - p.Thr155Pro (Ensembl:ENST00000373243) - c.463A>C (Ensembl:ENST00000373243) - p.Thr155Pro (Ensembl:ENST00000356090) - c.463A>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648664658 | 156 | Y>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.683) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000001.11:g.35560618A>T Codon: TAC/TTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560618A>T Locations: - p.Tyr156Phe (Ensembl:ENST00000373243) - c.467A>T (Ensembl:ENST00000373243) - p.Tyr156Phe (Ensembl:ENST00000356090) - c.467A>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57850270 | 157 | Q>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000001.11:g.35560621A>T Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560621A>T Locations: - p.Q157L (NCI-TCGA:ENST00000356090) - p.Gln157Leu (cosmic curated:ENST00000356090) - c.470A>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1362185041 | 158 | C>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.884) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560623T>G Codon: TGC/GGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560623T>G Locations: - p.Cys158Gly (Ensembl:ENST00000373243) - c.472T>G (Ensembl:ENST00000373243) - p.Cys158Gly (Ensembl:ENST00000356090) - c.472T>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1207425662 | 160 | T>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.665) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000001.11:g.35560630C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560630C>T Locations: - p.Thr160Met (Ensembl:ENST00000373243) - c.479C>T (Ensembl:ENST00000373243) - p.Thr160Met (Ensembl:ENST00000356090) - c.479C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57846549 | 161 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35560632G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35560632G>A Locations: - p.Ala161Thr (cosmic curated:ENST00000356090) - c.481G>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs778475964 | 162 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: tolerated (0.93) Somatic: No Accession: NC_000001.11:g.35560635G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560635G>A Locations: - p.Val162Ile (Ensembl:ENST00000373243) - c.484G>A (Ensembl:ENST00000373243) - p.Val162Ile (Ensembl:ENST00000356090) - c.484G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs1648666114 | 164 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.322) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000001.11:g.35560642G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560642G>A Locations: - p.Gly164Asp (Ensembl:ENST00000373243) - c.491G>A (Ensembl:ENST00000373243) - p.Gly164Asp (Ensembl:ENST00000356090) - c.491G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1376202214 | 164 | G>S | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000001.11:g.35560641G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560641G>A Locations: - p.Gly164Ser (Ensembl:ENST00000373243) - c.490G>A (Ensembl:ENST00000373243) - p.Gly164Ser (Ensembl:ENST00000356090) - c.490G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs772018198 | 166 | P>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.621) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.35560648C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560648C>G Locations: - p.Pro166Arg (Ensembl:ENST00000373243) - c.497C>G (Ensembl:ENST00000373243) - p.Pro166Arg (Ensembl:ENST00000356090) - c.497C>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs745439278 | 166 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.065) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000001.11:g.35560647C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560647C>T Locations: - p.Pro166Ser (Ensembl:ENST00000373243) - c.496C>T (Ensembl:ENST00000373243) - p.Pro166Ser (Ensembl:ENST00000356090) - c.496C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1408391245 | 167 | R>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000001.11:g.35560651G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560651G>A Locations: - p.Arg167Lys (Ensembl:ENST00000373243) - c.500G>A (Ensembl:ENST00000373243) - p.Arg167Lys (Ensembl:ENST00000356090) - c.500G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 169 | P>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.684) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000001.11:g.35560656C>A Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560656C>A Locations: - c.505C>A (NCI-TCGA:ENST00000356090) - p.P169T (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs143942845 | 170 | R>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.375) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000001.11:g.35560659C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560659C>G Locations: - p.Arg170Gly (Ensembl:ENST00000373243) - c.508C>G (Ensembl:ENST00000373243) - p.Arg170Gly (Ensembl:ENST00000356090) - c.508C>G (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs1319869402 | 170 | R>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.375) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.35560660G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560660G>T Locations: - p.Arg170Leu (Ensembl:ENST00000373243) - c.509G>T (Ensembl:ENST00000373243) - p.Arg170Leu (Ensembl:ENST00000356090) - c.509G>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1319869402 | 170 | R>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.096) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000001.11:g.35560660G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560660G>A Locations: - p.Arg170Gln (Ensembl:ENST00000373243) - c.509G>A (Ensembl:ENST00000373243) - p.Arg170Gln (Ensembl:ENST00000356090) - c.509G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs143942845 | 170 | R>W | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560659C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560659C>T Locations: - p.Arg170Trp (Ensembl:ENST00000373243) - c.508C>T (Ensembl:ENST00000373243) - p.Arg170Trp (Ensembl:ENST00000356090) - c.508C>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs539450659 | 172 | L>I | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.639) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000001.11:g.35560665C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560665C>A Locations: - p.Leu172Ile (Ensembl:ENST00000373243) - c.514C>A (Ensembl:ENST00000373243) - p.Leu172Ile (Ensembl:ENST00000356090) - c.514C>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 172 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.405) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560665C>G Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560665C>G Locations: - c.514C>G (NCI-TCGA:ENST00000356090) - p.L172V (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1648666965 | 173 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000001.11:g.35560668A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560668A>G Locations: - p.Ile173Val (Ensembl:ENST00000373243) - c.517A>G (Ensembl:ENST00000373243) - p.Ile173Val (Ensembl:ENST00000356090) - c.517A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648667089 | 174 | A>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.42) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000001.11:g.35560671G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560671G>C Locations: - p.Ala174Pro (Ensembl:ENST00000373243) - c.520G>C (Ensembl:ENST00000373243) - p.Ala174Pro (Ensembl:ENST00000356090) - c.520G>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs947943197 | 177 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.273) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560681C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560681C>T Locations: - p.Thr177Ile (Ensembl:ENST00000373243) - c.530C>T (Ensembl:ENST00000373243) - p.Thr177Ile (Ensembl:ENST00000356090) - c.530C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs2148537667 | 177 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.525) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560680A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560680A>C Locations: - p.Thr177Pro (Ensembl:ENST00000373243) - c.529A>C (Ensembl:ENST00000373243) - p.Thr177Pro (Ensembl:ENST00000356090) - c.529A>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs771974575 | 178 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000001.11:g.35560683G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560683G>C Locations: - p.Val178Leu (Ensembl:ENST00000373243) - c.532G>C (Ensembl:ENST00000373243) - p.Val178Leu (Ensembl:ENST00000356090) - c.532G>C (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs771974575 | 178 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.362) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560683G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560683G>A Locations: - p.Val178Met (Ensembl:ENST00000373243) - c.532G>A (Ensembl:ENST00000373243) - p.Val178Met (Ensembl:ENST00000356090) - c.532G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs1648667804 | 180 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.868) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000001.11:g.35560689G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560689G>T Locations: - p.Ala180Ser (Ensembl:ENST00000373243) - c.538G>T (Ensembl:ENST00000373243) - p.Ala180Ser (Ensembl:ENST00000356090) - c.538G>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1571083936 | 185 | Y>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.47) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560705A>C Codon: TAC/TCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560705A>C Locations: - p.Tyr185Ser (Ensembl:ENST00000373243) - c.554A>C (Ensembl:ENST00000373243) - p.Tyr185Ser (Ensembl:ENST00000356090) - c.554A>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1326485870 | 187 | G>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.881) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560710G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560710G>T Locations: - p.Gly187Trp (Ensembl:ENST00000373243) - c.559G>T (Ensembl:ENST00000373243) - p.Gly187Trp (Ensembl:ENST00000356090) - c.559G>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100357028 rs138793608 | 189 | G>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.939) - SIFT: tolerated (0.17) Somatic: Yes Population frequencies: - MAF: 0.000008003 (gnomAD) Accession: NC_000001.11:g.35560716G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560716G>T Locations: - p.G189C (NCI-TCGA:ENST00000373243) - p.G189C (NCI-TCGA:ENST00000356090) - p.Gly189Cys (Ensembl:ENST00000373243) - c.565G>T (Ensembl:ENST00000373243) - p.Gly189Cys (Ensembl:ENST00000356090) - c.565G>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs753163717 | 189 | G>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.183) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000001.11:g.35560717G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560717G>A Locations: - p.Gly189Asp (Ensembl:ENST00000373243) - c.566G>A (Ensembl:ENST00000373243) - p.Gly189Asp (Ensembl:ENST00000356090) - c.566G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs138793608 | 189 | G>S | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.241) - SIFT: tolerated (1) Somatic: No Accession: NC_000001.11:g.35560716G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560716G>A Locations: - p.Gly189Ser (Ensembl:ENST00000373243) - c.565G>A (Ensembl:ENST00000373243) - p.Gly189Ser (Ensembl:ENST00000356090) - c.565G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs188751865 | 190 | Y>C | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.845) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000001.11:g.35560720A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560720A>G Locations: - p.Tyr190Cys (Ensembl:ENST00000373243) - c.569A>G (Ensembl:ENST00000373243) - p.Tyr190Cys (Ensembl:ENST00000356090) - c.569A>G (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV57851994 | 190 | Y>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35560719T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35560719T>A Locations: - p.Tyr190Asn (cosmic curated:ENST00000356090) - c.568T>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1490268398 | 191 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.691) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560723G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560723G>A Locations: - p.Gly191Asp (Ensembl:ENST00000373243) - c.572G>A (Ensembl:ENST00000373243) - p.Gly191Asp (Ensembl:ENST00000356090) - c.572G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 196 | L>P | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.35560734_35560735insC Consequence type: frameshift Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560734_35560735insC Locations: - c.586dup (NCI-TCGA:ENST00000356090) - p.L196Pfs*32 (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 197 | A>H | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.35560739del Consequence type: frameshift Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560739del Locations: - c.589del (NCI-TCGA:ENST00000356090) - p.A197Hfs*77 (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1234014588 | 198 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560743C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560743C>T Locations: - p.Leu198Phe (Ensembl:ENST00000373243) - c.592C>T (Ensembl:ENST00000373243) - p.Leu198Phe (Ensembl:ENST00000356090) - c.592C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 198 | L>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000001.11:g.35560744T>C Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560744T>C Locations: - c.593T>C (NCI-TCGA:ENST00000356090) - p.L198P (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1471676734 | 200 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000001.11:g.35560749G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560749G>A Locations: - p.Val200Met (Ensembl:ENST00000373243) - c.598G>A (Ensembl:ENST00000373243) - p.Val200Met (Ensembl:ENST00000356090) - c.598G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648671461 | 201 | G>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000001.11:g.35560753G>C Codon: GGG/GCG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560753G>C Locations: - p.Gly201Ala (Ensembl:ENST00000373243) - c.602G>C (Ensembl:ENST00000373243) - p.Gly201Ala (Ensembl:ENST00000356090) - c.602G>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100357550 | 204 | A>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35560762C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35560762C>A Locations: - p.Ala204Asp (cosmic curated:ENST00000356090) - c.611C>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs112847107 | 204 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.83) Somatic: No Accession: NC_000001.11:g.35560761G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560761G>A Locations: - p.Ala204Thr (Ensembl:ENST00000373243) - c.610G>A (Ensembl:ENST00000373243) - p.Ala204Thr (Ensembl:ENST00000356090) - c.610G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648671897 | 205 | A>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.75) Somatic: No Accession: NC_000001.11:g.35560764G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560764G>T Locations: - p.Ala205Ser (Ensembl:ENST00000373243) - c.613G>T (Ensembl:ENST00000373243) - p.Ala205Ser (Ensembl:ENST00000356090) - c.613G>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57846924 rs778473377 | 206 | A>S | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.24) Somatic: Yes Accession: NC_000001.11:g.35560767G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560767G>T Locations: - p.Ala206Ser (Ensembl:ENST00000373243) - c.616G>T (Ensembl:ENST00000373243) - p.Ala206Ser (Ensembl:ENST00000356090) - c.616G>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs778473377 | 206 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000001.11:g.35560767G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560767G>A Locations: - p.Ala206Thr (Ensembl:ENST00000373243) - c.616G>A (Ensembl:ENST00000373243) - p.Ala206Thr (Ensembl:ENST00000356090) - c.616G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV57846758 | 206 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35560768C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35560768C>T Locations: - p.Ala206Val (cosmic curated:ENST00000356090) - c.617C>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1389786748 | 207 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000001.11:g.35560770G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560770G>A Locations: - p.Glu207Lys (Ensembl:ENST00000373243) - c.619G>A (Ensembl:ENST00000373243) - p.Glu207Lys (Ensembl:ENST00000356090) - c.619G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648672415 | 208 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.155) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000001.11:g.35560774C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560774C>T Locations: - p.Thr208Ile (Ensembl:ENST00000373243) - c.623C>T (Ensembl:ENST00000373243) - p.Thr208Ile (Ensembl:ENST00000356090) - c.623C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs757871167 | 209 | Q>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.163) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000001.11:g.35560777A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560777A>G Locations: - p.Gln209Arg (Ensembl:ENST00000373243) - c.626A>G (Ensembl:ENST00000373243) - p.Gln209Arg (Ensembl:ENST00000356090) - c.626A>G (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV57851400 | 210 | C>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35560780G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35560780G>T Locations: - p.Cys210Phe (cosmic curated:ENST00000356090) - c.629G>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57849727 | 212 | K>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35560785A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35560785A>T Locations: - p.Lys212Ter (cosmic curated:ENST00000356090) - c.634A>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1304632319 | 212 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000001.11:g.35560787G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560787G>C Locations: - p.Lys212Asn (Ensembl:ENST00000373243) - c.636G>C (Ensembl:ENST00000373243) - p.Lys212Asn (Ensembl:ENST00000356090) - c.636G>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1348206516 | 213 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.244) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560790G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560790G>T Locations: - p.Glu213Asp (Ensembl:ENST00000373243) - c.639G>T (Ensembl:ENST00000373243) - p.Glu213Asp (Ensembl:ENST00000356090) - c.639G>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648672826 | 214 | A>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.63) Somatic: No Accession: NC_000001.11:g.35560791G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560791G>T Locations: - p.Ala214Ser (Ensembl:ENST00000373243) - c.640G>T (Ensembl:ENST00000373243) - p.Ala214Ser (Ensembl:ENST00000356090) - c.640G>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100357154 rs1183459050 | 214 | A>V | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.244) - SIFT: tolerated (0.14) Somatic: Yes Accession: NC_000001.11:g.35560792C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560792C>T Locations: - p.Ala214Val (Ensembl:ENST00000373243) - c.641C>T (Ensembl:ENST00000373243) - p.Ala214Val (Ensembl:ENST00000356090) - c.641C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs746953868 | 215 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.165) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000001.11:g.35560796G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560796G>T Locations: - p.Glu215Asp (Ensembl:ENST00000373243) - c.645G>T (Ensembl:ENST00000373243) - p.Glu215Asp (Ensembl:ENST00000356090) - c.645G>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs1648673303 | 216 | P>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.244) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000001.11:g.35560798C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560798C>G Locations: - p.Pro216Arg (Ensembl:ENST00000373243) - c.647C>G (Ensembl:ENST00000373243) - p.Pro216Arg (Ensembl:ENST00000356090) - c.647C>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1558718795 | 216 | P>S | Likely benign (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000001.11:g.35560797C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560797C>T Locations: - p.Pro216Ser (Ensembl:ENST00000373243) - c.646C>T (Ensembl:ENST00000373243) - p.Pro216Ser (Ensembl:ENST00000356090) - c.646C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs755671229 | 217 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000001.11:g.35560800G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560800G>A Locations: - p.Asp217Asn (Ensembl:ENST00000373243) - c.649G>A (Ensembl:ENST00000373243) - p.Asp217Asn (Ensembl:ENST00000356090) - c.649G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs755671229 | 217 | D>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000001.11:g.35560800G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560800G>T Locations: - p.Asp217Tyr (Ensembl:ENST00000373243) - c.649G>T (Ensembl:ENST00000373243) - p.Asp217Tyr (Ensembl:ENST00000356090) - c.649G>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs1359240456 | 220 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.189) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000001.11:g.35560810C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560810C>G Locations: - p.Ala220Gly (Ensembl:ENST00000373243) - c.659C>G (Ensembl:ENST00000373243) - p.Ala220Gly (Ensembl:ENST00000356090) - c.659C>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1359240456 | 220 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000001.11:g.35560810C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560810C>T Locations: - p.Ala220Val (Ensembl:ENST00000373243) - c.659C>T (Ensembl:ENST00000373243) - p.Ala220Val (Ensembl:ENST00000356090) - c.659C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1271405870 | 221 | V>L | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000001.11:g.35560812G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560812G>C Locations: - p.Val221Leu (Ensembl:ENST00000373243) - c.661G>C (Ensembl:ENST00000373243) - p.Val221Leu (Ensembl:ENST00000356090) - c.661G>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1271405870 | 221 | V>M | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.618) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.35560812G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560812G>A Locations: - p.Val221Met (Ensembl:ENST00000373243) - c.661G>A (Ensembl:ENST00000373243) - p.Val221Met (Ensembl:ENST00000356090) - c.661G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs372420726 | 223 | R>P | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.18) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000001.11:g.35560819G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560819G>C Locations: - p.Arg223Pro (Ensembl:ENST00000373243) - c.668G>C (Ensembl:ENST00000373243) - p.Arg223Pro (Ensembl:ENST00000356090) - c.668G>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs372420726 | 223 | R>Q | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.244) - SIFT: tolerated (0.42) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000001.11:g.35560819G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560819G>A Locations: - p.Arg223Gln (Ensembl:ENST00000373243) - c.668G>A (Ensembl:ENST00000373243) - p.Arg223Gln (Ensembl:ENST00000356090) - c.668G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1482190924 | 223 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.881) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.35560818C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560818C>T Locations: - p.Arg223Trp (Ensembl:ENST00000373243) - c.667C>T (Ensembl:ENST00000373243) - p.Arg223Trp (Ensembl:ENST00000356090) - c.667C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 224 | G>A | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.35560819del Consequence type: frameshift Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560819del Locations: - c.671del (NCI-TCGA:ENST00000356090) - p.G224Afs*50 (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1648674860 | 224 | G>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.772) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000001.11:g.35560821G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560821G>T Locations: - p.Gly224Cys (Ensembl:ENST00000373243) - c.670G>T (Ensembl:ENST00000373243) - p.Gly224Cys (Ensembl:ENST00000356090) - c.670G>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1368093708 | 224 | G>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000001.11:g.35560822G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560822G>A Locations: - p.Gly224Asp (Ensembl:ENST00000373243) - c.671G>A (Ensembl:ENST00000373243) - p.Gly224Asp (Ensembl:ENST00000356090) - c.671G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648674860 | 224 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000001.11:g.35560821G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560821G>C Locations: - p.Gly224Arg (Ensembl:ENST00000373243) - c.670G>C (Ensembl:ENST00000373243) - p.Gly224Arg (Ensembl:ENST00000356090) - c.670G>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57847322 | 226 | S>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000001.11:g.35560827A>G Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560827A>G Locations: - p.S226G (NCI-TCGA:ENST00000356090) - p.Ser226Gly (cosmic curated:ENST00000356090) - c.676A>G (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs772071163 | 226 | S>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560828G>T Codon: AGT/ATT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560828G>T Locations: - p.Ser226Ile (Ensembl:ENST00000373243) - c.677G>T (Ensembl:ENST00000373243) - p.Ser226Ile (Ensembl:ENST00000356090) - c.677G>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 226 | S>R | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.35560827_35560830del Consequence type: frameshift Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560827_35560830del Locations: - c.678_681del (NCI-TCGA:ENST00000356090) - p.S226Rfs*47 (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV57849409 | 227 | E>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35560832G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35560832G>T Locations: - p.Glu227Asp (cosmic curated:ENST00000356090) - c.681G>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 228 | D>Q | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.35560833_35560843GATTTCCAGAA>C Consequence type: frameshift Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560833_35560843GATTTCCAGAA>C Locations: - c.682_692delinsC (NCI-TCGA:ENST00000356090) - p.D228Qfs*43 (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1166736665 | 230 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.189) - SIFT: tolerated (0.64) Somatic: No Accession: NC_000001.11:g.35560840A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560840A>G Locations: - p.Gln230Arg (Ensembl:ENST00000373243) - c.689A>G (Ensembl:ENST00000373243) - p.Gln230Arg (Ensembl:ENST00000356090) - c.689A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648676362 | 232 | A>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.338) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000001.11:g.35560846C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560846C>A Locations: - p.Ala232Asp (Ensembl:ENST00000373243) - c.695C>A (Ensembl:ENST00000373243) - p.Ala232Asp (Ensembl:ENST00000356090) - c.695C>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57843499 | 232 | A>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.917) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000001.11:g.35560845G>C Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560845G>C Locations: - p.A232P (NCI-TCGA:ENST00000356090) - p.Ala232Pro (cosmic curated:ENST00000356090) - c.694G>C (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648675288 | 232 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.773) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000001.11:g.35560845G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560845G>A Locations: - p.Ala232Thr (Ensembl:ENST00000373243) - c.694G>A (Ensembl:ENST00000373243) - p.Ala232Thr (Ensembl:ENST00000356090) - c.694G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs761254119 | 233 | E>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.239) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.35560849A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560849A>C Locations: - p.Glu233Ala (Ensembl:ENST00000373243) - c.698A>C (Ensembl:ENST00000373243) - p.Glu233Ala (Ensembl:ENST00000356090) - c.698A>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57851237 | 234 | D>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35560851G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35560851G>A Locations: - p.Asp234Asn (cosmic curated:ENST00000356090) - c.700G>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1571084072 | 234 | D>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.959) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560851G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560851G>T Locations: - p.Asp234Tyr (Ensembl:ENST00000373243) - c.700G>T (Ensembl:ENST00000373243) - p.Asp234Tyr (Ensembl:ENST00000356090) - c.700G>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648676973 | 235 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.189) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000001.11:g.35560854G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560854G>A Locations: - p.Ala235Thr (Ensembl:ENST00000373243) - c.703G>A (Ensembl:ENST00000373243) - p.Ala235Thr (Ensembl:ENST00000356090) - c.703G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648677709 | 236 | S>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000001.11:g.35560857A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560857A>G Locations: - p.Ser236Gly (Ensembl:ENST00000373243) - c.706A>G (Ensembl:ENST00000373243) - p.Ser236Gly (Ensembl:ENST00000356090) - c.706A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1169310220 | 236 | S>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.189) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000001.11:g.35560858G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560858G>A Locations: - p.Ser236Asn (Ensembl:ENST00000373243) - c.707G>A (Ensembl:ENST00000373243) - p.Ser236Asn (Ensembl:ENST00000356090) - c.707G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100357713 | 242 | Q>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.2) Somatic: Yes Accession: NC_000001.11:g.35560876A>G Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560876A>G Locations: - p.Q242R (NCI-TCGA:ENST00000356090) - p.Gln242Arg (cosmic curated:ENST00000356090) - c.725A>G (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 244 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560881C>A Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560881C>A Locations: - c.730C>A (NCI-TCGA:ENST00000356090) - p.L244M (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV104395302 | 248 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.527) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000001.11:g.35560895G>T Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560895G>T Locations: - c.744G>T (NCI-TCGA:ENST00000356090) - p.L248F (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57843945 rs754226344 | 250 | P>L | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.45) Somatic: Yes Accession: NC_000001.11:g.35560900C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560900C>T Locations: - p.Pro250Leu (Ensembl:ENST00000373243) - c.749C>T (Ensembl:ENST00000373243) - p.Pro250Leu (Ensembl:ENST00000356090) - c.749C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs764896836 | 252 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.73) Somatic: No Accession: NC_000001.11:g.35560905A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560905A>G Locations: - p.Thr252Ala (Ensembl:ENST00000373243) - c.754A>G (Ensembl:ENST00000373243) - p.Thr252Ala (Ensembl:ENST00000356090) - c.754A>G (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs138767615 | 253 | V>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.165) - SIFT: tolerated (0.64) Somatic: No Accession: NC_000001.11:g.35560908G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560908G>C Locations: - p.Val253Leu (Ensembl:ENST00000373243) - c.757G>C (Ensembl:ENST00000373243) - p.Val253Leu (Ensembl:ENST00000356090) - c.757G>C (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs138767615 | 253 | V>M | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.625) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000001.11:g.35560908G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560908G>A Locations: - p.Val253Met (Ensembl:ENST00000373243) - c.757G>A (Ensembl:ENST00000373243) - p.Val253Met (Ensembl:ENST00000356090) - c.757G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs751126346 | 254 | P>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.824) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000001.11:g.35560912C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560912C>A Locations: - p.Pro254His (Ensembl:ENST00000373243) - c.761C>A (Ensembl:ENST00000373243) - p.Pro254His (Ensembl:ENST00000356090) - c.761C>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV100356977 | 254 | P>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.467) - SIFT: tolerated (0.56) Somatic: Yes Accession: NC_000001.11:g.35560912C>G Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560912C>G Locations: - p.P254R (NCI-TCGA:ENST00000356090) - p.Pro254Arg (cosmic curated:ENST00000356090) - c.761C>G (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs768893626 | 254 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.303) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000001.11:g.35560911C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560911C>T Locations: - p.Pro254Ser (Ensembl:ENST00000373243) - c.760C>T (Ensembl:ENST00000373243) - p.Pro254Ser (Ensembl:ENST00000356090) - c.760C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57849721 rs1382695651 | 255 | P>L | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000001.11:g.35560915C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560915C>T Locations: - p.Pro255Leu (Ensembl:ENST00000373243) - c.764C>T (Ensembl:ENST00000373243) - p.Pro255Leu (Ensembl:ENST00000356090) - c.764C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100357190 | 257 | C>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35560921G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35560921G>T Locations: - p.Cys257Phe (cosmic curated:ENST00000356090) - c.770G>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1340399067 | 257 | C>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000001.11:g.35560921G>C Codon: TGC/TCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560921G>C Locations: - p.Cys257Ser (Ensembl:ENST00000373243) - c.770G>C (Ensembl:ENST00000373243) - p.Cys257Ser (Ensembl:ENST00000356090) - c.770G>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs769495645 | 258 | Y>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000001.11:g.35560923T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560923T>C Locations: - p.Tyr258His (Ensembl:ENST00000373243) - c.772T>C (Ensembl:ENST00000373243) - p.Tyr258His (Ensembl:ENST00000356090) - c.772T>C (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV57841581 rs772400383 | 259 | R>Q | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.45) Somatic: Yes Accession: NC_000001.11:g.35560927G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560927G>A Locations: - p.Arg259Gln (Ensembl:ENST00000373243) - c.776G>A (Ensembl:ENST00000373243) - p.Arg259Gln (Ensembl:ENST00000356090) - c.776G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57844158 rs761875932 | 259 | R>W | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.881) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000001.11:g.35560926C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560926C>T Locations: - p.Arg259Trp (Ensembl:ENST00000373243) - c.775C>T (Ensembl:ENST00000373243) - p.Arg259Trp (Ensembl:ENST00000356090) - c.775C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1185279829 | 260 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.364) - SIFT: tolerated (0.86) Somatic: No Accession: NC_000001.11:g.35560929G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560929G>A Locations: - p.Asp260Asn (Ensembl:ENST00000373243) - c.778G>A (Ensembl:ENST00000373243) - p.Asp260Asn (Ensembl:ENST00000356090) - c.778G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57849429 | 260 | D>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35560929G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35560929G>T Locations: - p.Asp260Tyr (cosmic curated:ENST00000356090) - c.778G>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648680885 | 261 | L>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.756) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000001.11:g.35560932C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560932C>A Locations: - p.Leu261Met (Ensembl:ENST00000373243) - c.781C>A (Ensembl:ENST00000373243) - p.Leu261Met (Ensembl:ENST00000356090) - c.781C>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs144588804 | 263 | A>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.28) Somatic: No Population frequencies: - MAF: 0 (1000Genomes) Accession: NC_000001.11:g.35560939C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560939C>G Locations: - p.Ala263Gly (Ensembl:ENST00000373243) - c.788C>G (Ensembl:ENST00000373243) - p.Ala263Gly (Ensembl:ENST00000356090) - c.788C>G (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs144588804 | 263 | A>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.44) - SIFT: tolerated (0.11) Somatic: No Population frequencies: - MAF: 0 (1000Genomes) Accession: NC_000001.11:g.35560939C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560939C>T Locations: - p.Ala263Val (Ensembl:ENST00000373243) - c.788C>T (Ensembl:ENST00000373243) - p.Ala263Val (Ensembl:ENST00000356090) - c.788C>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV57851828 | 264 | G>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35560942G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35560942G>A Locations: - p.Gly264Glu (cosmic curated:ENST00000356090) - c.791G>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100357621 COSV57851828 | 264 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: tolerated (0.17) Somatic: Yes Accession: NC_000001.11:g.35560942G>T Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560942G>T Locations: - p.G264V (NCI-TCGA:ENST00000356090) - p.Gly264Val (cosmic curated:ENST00000356090) - c.791G>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1168643533 | 266 | A>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.255) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000001.11:g.35560948C>A Codon: GCA/GAA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560948C>A Locations: - p.Ala266Glu (Ensembl:ENST00000373243) - c.797C>A (Ensembl:ENST00000373243) - p.Ala266Glu (Ensembl:ENST00000356090) - c.797C>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs777301908 | 267 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.788) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000001.11:g.35560950C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560950C>T Locations: - p.Arg267Cys (Ensembl:ENST00000373243) - c.799C>T (Ensembl:ENST00000373243) - p.Arg267Cys (Ensembl:ENST00000356090) - c.799C>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs762199210 | 267 | R>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.712) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000001.11:g.35560951G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560951G>A Locations: - p.Arg267His (Ensembl:ENST00000373243) - c.800G>A (Ensembl:ENST00000373243) - p.Arg267His (Ensembl:ENST00000356090) - c.800G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57844761 | 267 | R>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35560951G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35560951G>T Locations: - p.Arg267Leu (cosmic curated:ENST00000356090) - c.800G>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1464166753 | 268 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000001.11:g.35560953A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560953A>G Locations: - p.Ile268Val (Ensembl:ENST00000373243) - c.802A>G (Ensembl:ENST00000373243) - p.Ile268Val (Ensembl:ENST00000356090) - c.802A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57847745 | 271 | S>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35560963G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35560963G>A Locations: - p.Ser271Asn (cosmic curated:ENST00000356090) - c.812G>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs750035948 | 278 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560983C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560983C>T Locations: - p.Arg278Cys (Ensembl:ENST00000373243) - c.832C>T (Ensembl:ENST00000373243) - p.Arg278Cys (Ensembl:ENST00000356090) - c.832C>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs1013869598 | 278 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35560984G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560984G>A Locations: - p.Arg278His (Ensembl:ENST00000373243) - c.833G>A (Ensembl:ENST00000373243) - p.Arg278His (Ensembl:ENST00000356090) - c.833G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1453991915 | 280 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.941) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000001.11:g.35560989C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35560989C>A Locations: - p.Pro280Thr (Ensembl:ENST00000373243) - c.838C>A (Ensembl:ENST00000373243) - p.Pro280Thr (Ensembl:ENST00000356090) - c.838C>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648682204 | 283 | K>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.764) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35561000G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561000G>C Locations: - p.Lys283Asn (Ensembl:ENST00000373243) - c.849G>C (Ensembl:ENST00000373243) - p.Lys283Asn (Ensembl:ENST00000356090) - c.849G>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1379549827 | 285 | A>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.114) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000001.11:g.35561005C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561005C>G Locations: - p.Ala285Gly (Ensembl:ENST00000373243) - c.854C>G (Ensembl:ENST00000373243) - p.Ala285Gly (Ensembl:ENST00000356090) - c.854C>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100357481 | 286 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000001.11:g.35561008C>T Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561008C>T Locations: - p.A286V (NCI-TCGA:ENST00000356090) - p.Ala286Val (cosmic curated:ENST00000356090) - c.857C>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1363495505 | 287 | R>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000001.11:g.35561010C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561010C>T Locations: - p.Arg287Cys (Ensembl:ENST00000373243) - c.859C>T (Ensembl:ENST00000373243) - p.Arg287Cys (Ensembl:ENST00000356090) - c.859C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs766087108 | 287 | R>H | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.625) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000001.11:g.35561011G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561011G>A Locations: - p.Arg287His (Ensembl:ENST00000373243) - c.860G>A (Ensembl:ENST00000373243) - p.Arg287His (Ensembl:ENST00000356090) - c.860G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs1295217652 | 289 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (1) Somatic: No Accession: NC_000001.11:g.35561017C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561017C>T Locations: - p.Ala289Val (Ensembl:ENST00000373243) - c.866C>T (Ensembl:ENST00000373243) - p.Ala289Val (Ensembl:ENST00000356090) - c.866C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs751036326 | 290 | H>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000001.11:g.35561021C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561021C>A Locations: - p.His290Gln (Ensembl:ENST00000373243) - c.870C>A (Ensembl:ENST00000373243) - p.His290Gln (Ensembl:ENST00000356090) - c.870C>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs969318014 | 291 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000001.11:g.35561022G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561022G>T Locations: - p.Ala291Ser (Ensembl:ENST00000373243) - c.871G>T (Ensembl:ENST00000373243) - p.Ala291Ser (Ensembl:ENST00000356090) - c.871G>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs969318014 | 291 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.266) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000001.11:g.35561022G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561022G>A Locations: - p.Ala291Thr (Ensembl:ENST00000373243) - c.871G>A (Ensembl:ENST00000373243) - p.Ala291Thr (Ensembl:ENST00000356090) - c.871G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 291 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.402) - SIFT: tolerated (1) Somatic: No Accession: NC_000001.11:g.35561023C>T Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561023C>T Locations: - c.872C>T (NCI-TCGA:ENST00000356090) - p.A291V (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs754530076 | 292 | C>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.375) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.35561025T>G Codon: TGC/GGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561025T>G Locations: - p.Cys292Gly (Ensembl:ENST00000373243) - c.874T>G (Ensembl:ENST00000373243) - p.Cys292Gly (Ensembl:ENST00000356090) - c.874T>G (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs754530076 | 292 | C>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.575) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35561025T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561025T>C Locations: - p.Cys292Arg (Ensembl:ENST00000373243) - c.874T>C (Ensembl:ENST00000373243) - p.Cys292Arg (Ensembl:ENST00000356090) - c.874T>C (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV105214373 | 293 | G>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35561028G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35561028G>T Locations: - p.Gly293Cys (cosmic curated:ENST00000356090) - c.877G>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs769855847 | 293 | G>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000001.11:g.35561028G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561028G>A Locations: - p.Gly293Ser (Ensembl:ENST00000373243) - c.877G>A (Ensembl:ENST00000373243) - p.Gly293Ser (Ensembl:ENST00000356090) - c.877G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV57844768 | 293 | G>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35561029G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35561029G>T Locations: - p.Gly293Val (cosmic curated:ENST00000356090) - c.878G>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57850555 rs368464438 | 294 | S>F | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.642) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000001.11:g.35561032C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561032C>T Locations: - p.Ser294Phe (Ensembl:ENST00000373243) - c.881C>T (Ensembl:ENST00000373243) - p.Ser294Phe (Ensembl:ENST00000356090) - c.881C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648686099 | 294 | S>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.424) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000001.11:g.35561031T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561031T>C Locations: - p.Ser294Pro (Ensembl:ENST00000373243) - c.880T>C (Ensembl:ENST00000373243) - p.Ser294Pro (Ensembl:ENST00000356090) - c.880T>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1186887015 | 295 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000001.11:g.35561036C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561036C>A Locations: - p.Asp295Glu (Ensembl:ENST00000373243) - c.885C>A (Ensembl:ENST00000373243) - p.Asp295Glu (Ensembl:ENST00000356090) - c.885C>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs369452951 | 295 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000001.11:g.35561034G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561034G>A Locations: - p.Asp295Asn (Ensembl:ENST00000373243) - c.883G>A (Ensembl:ENST00000373243) - p.Asp295Asn (Ensembl:ENST00000356090) - c.883G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs369452951 | 295 | D>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.074) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35561034G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561034G>T Locations: - p.Asp295Tyr (Ensembl:ENST00000373243) - c.883G>T (Ensembl:ENST00000373243) - p.Asp295Tyr (Ensembl:ENST00000356090) - c.883G>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV57845474 | 296 | W>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35561037T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35561037T>A Locations: - p.Trp296Arg (cosmic curated:ENST00000356090) - c.886T>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs773171405 | 298 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000001.11:g.35561044C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561044C>T Locations: - p.Pro298Leu (Ensembl:ENST00000373243) - c.893C>T (Ensembl:ENST00000373243) - p.Pro298Leu (Ensembl:ENST00000356090) - c.893C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1421284275 | 298 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000001.11:g.35561043C>A Codon: CCG/ACG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561043C>A Locations: - p.Pro298Thr (Ensembl:ENST00000373243) - c.892C>A (Ensembl:ENST00000373243) - p.Pro298Thr (Ensembl:ENST00000356090) - c.892C>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 299 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.078) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000001.11:g.35561046G>A Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561046G>A Locations: - c.895G>A (NCI-TCGA:ENST00000356090) - p.A299T (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs780475408 | 299 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000001.11:g.35561047C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561047C>T Locations: - p.Ala299Val (Ensembl:ENST00000373243) - c.896C>T (Ensembl:ENST00000373243) - p.Ala299Val (Ensembl:ENST00000356090) - c.896C>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs1339330704 | 301 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000001.11:g.35561053G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561053G>A Locations: - p.Ser301Asn (Ensembl:ENST00000373243) - c.902G>A (Ensembl:ENST00000373243) - p.Ser301Asn (Ensembl:ENST00000356090) - c.902G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs777214106 | 302 | S>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000001.11:g.35561055T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561055T>C Locations: - p.Ser302Pro (Ensembl:ENST00000373243) - c.904T>C (Ensembl:ENST00000373243) - p.Ser302Pro (Ensembl:ENST00000356090) - c.904T>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100357195 | 302 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.515) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000001.11:g.35561056C>A Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561056C>A Locations: - p.S302Y (NCI-TCGA:ENST00000356090) - p.Ser302Tyr (cosmic curated:ENST00000356090) - c.905C>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1289801038 | 303 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000001.11:g.35561058G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561058G>A Locations: - p.Gly303Arg (Ensembl:ENST00000373243) - c.907G>A (Ensembl:ENST00000373243) - p.Gly303Arg (Ensembl:ENST00000356090) - c.907G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1289801038 | 303 | G>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35561058G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561058G>T Locations: - p.Gly303Trp (Ensembl:ENST00000373243) - c.907G>T (Ensembl:ENST00000373243) - p.Gly303Trp (Ensembl:ENST00000356090) - c.907G>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100357653 COSV100357257 | 306 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000001.11:g.35561069C>A, NC_000001.11:g.35561069C>G Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561069C>A, NC_000001.11:g.35561069C>G Locations: - p.Phe306Leu (cosmic curated:ENST00000356090) - c.918C>A (cosmic curated:ENST00000356090) - p.F306L (NCI-TCGA:ENST00000356090) - c.918C>G (cosmic curated:ENST00000356090) Source type: large scale study | |||||||
COSV100356742 | 308 | A>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35561073G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35561073G>T Locations: - p.Ala308Ser (cosmic curated:ENST00000356090) - c.922G>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1324394398 | 308 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.118) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.35561074C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561074C>T Locations: - p.Ala308Val (Ensembl:ENST00000373243) - c.923C>T (Ensembl:ENST00000373243) - p.Ala308Val (Ensembl:ENST00000356090) - c.923C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1274100960 | 309 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000001.11:g.35561076C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561076C>G Locations: - p.Leu309Val (Ensembl:ENST00000373243) - c.925C>G (Ensembl:ENST00000373243) - p.Leu309Val (Ensembl:ENST00000356090) - c.925C>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1430961996 | 310 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.345) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000001.11:g.35561079C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561079C>G Locations: - p.Leu310Val (Ensembl:ENST00000373243) - c.928C>G (Ensembl:ENST00000373243) - p.Leu310Val (Ensembl:ENST00000356090) - c.928C>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1571084311 | 311 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.803) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35561083T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561083T>G Locations: - p.Val311Gly (Ensembl:ENST00000373243) - c.932T>G (Ensembl:ENST00000373243) - p.Val311Gly (Ensembl:ENST00000356090) - c.932T>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100357912 | 314 | A>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35561091G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35561091G>T Locations: - p.Ala314Ser (cosmic curated:ENST00000356090) - c.940G>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1225401226 | 314 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.761) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.35561092C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561092C>T Locations: - p.Ala314Val (Ensembl:ENST00000373243) - c.941C>T (Ensembl:ENST00000373243) - p.Ala314Val (Ensembl:ENST00000356090) - c.941C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57848923 | 316 | V>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35561097G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35561097G>T Locations: - p.Val316Leu (cosmic curated:ENST00000356090) - c.946G>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57844243 rs1216343677 | 316 | V>M | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000001.11:g.35561097G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561097G>A Locations: - p.Val316Met (Ensembl:ENST00000373243) - c.946G>A (Ensembl:ENST00000373243) - p.Val316Met (Ensembl:ENST00000356090) - c.946G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs1648689387 | 317 | E>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35561100G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561100G>C Locations: - p.Glu317Gln (Ensembl:ENST00000373243) - c.949G>C (Ensembl:ENST00000373243) - p.Glu317Gln (Ensembl:ENST00000356090) - c.949G>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648689474 | 318 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.35561104T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561104T>C Locations: - p.Val318Ala (Ensembl:ENST00000373243) - c.953T>C (Ensembl:ENST00000373243) - p.Val318Ala (Ensembl:ENST00000356090) - c.953T>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs774014076 | 319 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35561107G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561107G>A Locations: - p.Arg319Gln (Ensembl:ENST00000373243) - c.956G>A (Ensembl:ENST00000373243) - p.Arg319Gln (Ensembl:ENST00000356090) - c.956G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs759004083 | 320 | L>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.71) Somatic: No Accession: NC_000001.11:g.35561109C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561109C>A Locations: - p.Leu320Met (Ensembl:ENST00000373243) - c.958C>A (Ensembl:ENST00000373243) - p.Leu320Met (Ensembl:ENST00000356090) - c.958C>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs987912428 | 321 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: tolerated (0.6) Somatic: No Accession: NC_000001.11:g.35561112G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561112G>T Locations: - p.Ala321Ser (Ensembl:ENST00000373243) - c.961G>T (Ensembl:ENST00000373243) - p.Ala321Ser (Ensembl:ENST00000356090) - c.961G>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs11545628 | 321 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000001.11:g.35561113C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561113C>T Locations: - p.Ala321Val (Ensembl:ENST00000373243) - c.962C>T (Ensembl:ENST00000373243) - p.Ala321Val (Ensembl:ENST00000356090) - c.962C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1156310233 | 322 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35561115C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561115C>G Locations: - p.Leu322Val (Ensembl:ENST00000373243) - c.964C>G (Ensembl:ENST00000373243) - p.Leu322Val (Ensembl:ENST00000356090) - c.964C>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1571084360 | 323 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.797) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35561119A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561119A>G Locations: - p.Glu323Gly (Ensembl:ENST00000373243) - c.968A>G (Ensembl:ENST00000373243) - p.Glu323Gly (Ensembl:ENST00000356090) - c.968A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1406495920 | 323 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35561118G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561118G>A Locations: - p.Glu323Lys (Ensembl:ENST00000373243) - c.967G>A (Ensembl:ENST00000373243) - p.Glu323Lys (Ensembl:ENST00000356090) - c.967G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1465160957 | 324 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35561122A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561122A>G Locations: - p.Glu324Gly (Ensembl:ENST00000373243) - c.971A>G (Ensembl:ENST00000373243) - p.Glu324Gly (Ensembl:ENST00000356090) - c.971A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57844646 | 324 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35561121G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35561121G>A Locations: - p.Glu324Lys (cosmic curated:ENST00000356090) - c.970G>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs572728420 | 325 | T>M | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000001.11:g.35561125C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561125C>T Locations: - p.Thr325Met (Ensembl:ENST00000373243) - c.974C>T (Ensembl:ENST00000373243) - p.Thr325Met (Ensembl:ENST00000356090) - c.974C>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs1648690911 | 326 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000001.11:g.35561127G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561127G>C Locations: - p.Gly326Arg (Ensembl:ENST00000373243) - c.976G>C (Ensembl:ENST00000373243) - p.Gly326Arg (Ensembl:ENST00000356090) - c.976G>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs757143203 | 327 | T>M | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000001.11:g.35561131C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561131C>T Locations: - p.Thr327Met (Ensembl:ENST00000373243) - c.980C>T (Ensembl:ENST00000373243) - p.Thr327Met (Ensembl:ENST00000356090) - c.980C>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV100357872 rs943795393 | 328 | E>D | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.43) Somatic: Yes Accession: NC_000001.11:g.35561135G>T, NC_000001.11:g.35561135G>C Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561135G>T, NC_000001.11:g.35561135G>C Locations: - p.Glu328Asp (cosmic curated:ENST00000356090) - c.984G>T (cosmic curated:ENST00000356090) - p.Glu328Asp (Ensembl:ENST00000373243) - c.984G>C (Ensembl:ENST00000373243) - p.Glu328Asp (Ensembl:ENST00000356090) - c.984G>C (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV106416987 | 328 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35561133G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35561133G>A Locations: - p.Glu328Lys (cosmic curated:ENST00000356090) - c.982G>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1571084391 | 329 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000001.11:g.35561137T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561137T>G Locations: - p.Val329Gly (Ensembl:ENST00000373243) - c.986T>G (Ensembl:ENST00000373243) - p.Val329Gly (Ensembl:ENST00000356090) - c.986T>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1403434230 | 329 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000001.11:g.35561136G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561136G>C Locations: - p.Val329Leu (Ensembl:ENST00000373243) - c.985G>C (Ensembl:ENST00000373243) - p.Val329Leu (Ensembl:ENST00000356090) - c.985G>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
RCV001775364 rs2148538021 | 331 | E>missing | Neurodevelopmental disorder with infantile epileptic spasms (ClinVar) | Likely pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.35561141dup Consequence type: frameshift Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561141dup Locations: - p.Glu331fs (ClinVar:ENST00000373243) Disease association: - Neurodevelopmental disorder with infantile epileptic spasms Source type: large scale study Cross-references: | |||||||
rs747241342 | 332 | D>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000001.11:g.35561146A>C Codon: GAT/GCT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561146A>C Locations: - p.Asp332Ala (Ensembl:ENST00000373243) - c.995A>C (Ensembl:ENST00000373243) - p.Asp332Ala (Ensembl:ENST00000356090) - c.995A>C (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs1277871540 | 332 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000001.11:g.35561147T>G Codon: GAT/GAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561147T>G Locations: - p.Asp332Glu (Ensembl:ENST00000373243) - c.996T>G (Ensembl:ENST00000373243) - p.Asp332Glu (Ensembl:ENST00000356090) - c.996T>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs150364361 | 333 | V>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.3) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000001.11:g.35561148G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561148G>T Locations: - p.Val333Leu (Ensembl:ENST00000373243) - c.997G>T (Ensembl:ENST00000373243) - p.Val333Leu (Ensembl:ENST00000356090) - c.997G>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs150364361 | 333 | V>M | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.665) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000001.11:g.35561148G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561148G>A Locations: - p.Val333Met (Ensembl:ENST00000373243) - c.997G>A (Ensembl:ENST00000373243) - p.Val333Met (Ensembl:ENST00000356090) - c.997G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1571084410 | 334 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.734) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35561152T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561152T>G Locations: - p.Val334Gly (Ensembl:ENST00000373243) - c.1001T>G (Ensembl:ENST00000373243) - p.Val334Gly (Ensembl:ENST00000356090) - c.1001T>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs781409276 | 334 | V>L | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000001.11:g.35561151G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561151G>T Locations: - p.Val334Leu (Ensembl:ENST00000373243) - c.1000G>T (Ensembl:ENST00000373243) - p.Val334Leu (Ensembl:ENST00000356090) - c.1000G>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs781409276 | 334 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000001.11:g.35561151G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561151G>A Locations: - p.V334M (NCI-TCGA:ENST00000373243) - p.V334M (NCI-TCGA:ENST00000356090) - p.Val334Met (Ensembl:ENST00000373243) - c.1000G>A (Ensembl:ENST00000373243) - p.Val334Met (Ensembl:ENST00000356090) - c.1000G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs773816119 | 336 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.169) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000001.11:g.35561157G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561157G>T Locations: - p.Ala336Ser (Ensembl:ENST00000373243) - c.1006G>T (Ensembl:ENST00000373243) - p.Ala336Ser (Ensembl:ENST00000356090) - c.1006G>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs773816119 | 336 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.773) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35561157G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561157G>A Locations: - p.Ala336Thr (Ensembl:ENST00000373243) - c.1006G>A (Ensembl:ENST00000373243) - p.Ala336Thr (Ensembl:ENST00000356090) - c.1006G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV57848742 | 336 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35561158C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35561158C>T Locations: - p.Ala336Val (cosmic curated:ENST00000356090) - c.1007C>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57849320 rs201718421 | 338 | Y>C | cosmic curated 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000001.11:g.35561164A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561164A>G Locations: - p.Tyr338Cys (Ensembl:ENST00000373243) - c.1013A>G (Ensembl:ENST00000373243) - p.Tyr338Cys (Ensembl:ENST00000356090) - c.1013A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 339 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000001.11:g.35561166G>A Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561166G>A Locations: - c.1015G>A (NCI-TCGA:ENST00000356090) - p.A339T (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV57850931 | 339 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35561167C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35561167C>T Locations: - p.Ala339Val (cosmic curated:ENST00000356090) - c.1016C>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1490734140 | 341 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.464) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35561173T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561173T>C Locations: - p.Met341Thr (Ensembl:ENST00000373243) - c.1022T>C (Ensembl:ENST00000373243) - p.Met341Thr (Ensembl:ENST00000356090) - c.1022T>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57845534 | 342 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000001.11:g.35561175G>C Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561175G>C Locations: - p.E342Q (NCI-TCGA:ENST00000356090) - p.Glu342Gln (cosmic curated:ENST00000356090) - c.1024G>C (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648693270 | 344 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.734) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35561181G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561181G>A Locations: - p.Gly344Arg (Ensembl:ENST00000373243) - c.1030G>A (Ensembl:ENST00000373243) - p.Gly344Arg (Ensembl:ENST00000356090) - c.1030G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 346 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000001.11:g.35561187C>T Consequence type: stop gained Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561187C>T Locations: - c.1036C>T (NCI-TCGA:ENST00000356090) - p.Q346* (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV100356733 | 346 | Q>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35561189G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35561189G>T Locations: - p.Gln346His (cosmic curated:ENST00000356090) - c.1038G>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs759196253 | 350 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.35561199C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561199C>T Locations: - p.Arg350Cys (Ensembl:ENST00000373243) - c.1048C>T (Ensembl:ENST00000373243) - p.Arg350Cys (Ensembl:ENST00000356090) - c.1048C>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs1648693817 | 350 | R>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.625) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000001.11:g.35561200G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561200G>A Locations: - p.Arg350His (Ensembl:ENST00000373243) - c.1049G>A (Ensembl:ENST00000373243) - p.Arg350His (Ensembl:ENST00000356090) - c.1049G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1410770660 | 353 | Q>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000001.11:g.35561208C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561208C>G Locations: - p.Gln353Glu (Ensembl:ENST00000373243) - c.1057C>G (Ensembl:ENST00000373243) - p.Gln353Glu (Ensembl:ENST00000356090) - c.1057C>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs536102934 | 354 | S>A | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000001.11:g.35561211T>G Codon: TCA/GCA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561211T>G Locations: - p.Ser354Ala (Ensembl:ENST00000373243) - c.1060T>G (Ensembl:ENST00000373243) - p.Ser354Ala (Ensembl:ENST00000356090) - c.1060T>G (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV57843931 | 354 | S>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35561211T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35561211T>A Locations: - p.Ser354Thr (cosmic curated:ENST00000356090) - c.1060T>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs760286139 | 358 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000001.11:g.35561223G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561223G>A Locations: - p.Glu358Lys (Ensembl:ENST00000373243) - c.1072G>A (Ensembl:ENST00000373243) - p.Glu358Lys (Ensembl:ENST00000356090) - c.1072G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs184232102 | 359 | P>S | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.72) Somatic: No Accession: NC_000001.11:g.35561226C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561226C>T Locations: - p.Pro359Ser (Ensembl:ENST00000373243) - c.1075C>T (Ensembl:ENST00000373243) - p.Pro359Ser (Ensembl:ENST00000356090) - c.1075C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648694647 | 364 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.251) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35561241C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561241C>T Locations: - p.Leu364Phe (Ensembl:ENST00000373243) - c.1090C>T (Ensembl:ENST00000373243) - p.Leu364Phe (Ensembl:ENST00000356090) - c.1090C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648694857 | 365 | V>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.71) Somatic: No Accession: NC_000001.11:g.35561244G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561244G>A Locations: - p.Val365Met (Ensembl:ENST00000373243) - c.1093G>A (Ensembl:ENST00000373243) - p.Val365Met (Ensembl:ENST00000356090) - c.1093G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57849491 rs761636138 | 367 | V>I | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000001.11:g.35561250G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561250G>A Locations: - p.Val367Ile (Ensembl:ENST00000373243) - c.1099G>A (Ensembl:ENST00000373243) - p.Val367Ile (Ensembl:ENST00000356090) - c.1099G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648695373 | 370 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.438) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000001.11:g.35561260A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561260A>G Locations: - p.Glu370Gly (Ensembl:ENST00000373243) - c.1109A>G (Ensembl:ENST00000373243) - p.Glu370Gly (Ensembl:ENST00000356090) - c.1109A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV107352273 | 371 | A>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35561263C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35561263C>A Locations: - p.Ala371Asp (cosmic curated:ENST00000356090) - c.1112C>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1292243764 | 371 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000001.11:g.35561262G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561262G>A Locations: - p.Ala371Thr (Ensembl:ENST00000373243) - c.1111G>A (Ensembl:ENST00000373243) - p.Ala371Thr (Ensembl:ENST00000356090) - c.1111G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 371 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.95) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.35561263C>T Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561263C>T Locations: - c.1112C>T (NCI-TCGA:ENST00000356090) - p.A371V (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1202626049 | 372 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.244) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35561266T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561266T>C Locations: - p.Ile372Thr (Ensembl:ENST00000373243) - c.1115T>C (Ensembl:ENST00000373243) - p.Ile372Thr (Ensembl:ENST00000356090) - c.1115T>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs750301464 | 372 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.094) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000001.11:g.35561265A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561265A>G Locations: - p.Ile372Val (Ensembl:ENST00000373243) - c.1114A>G (Ensembl:ENST00000373243) - p.Ile372Val (Ensembl:ENST00000356090) - c.1114A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs755247482 | 373 | G>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.464) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.35561269G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561269G>A Locations: - p.Gly373Glu (Ensembl:ENST00000373243) - c.1118G>A (Ensembl:ENST00000373243) - p.Gly373Glu (Ensembl:ENST00000356090) - c.1118G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs200105021 | 374 | A>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.259) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000001.11:g.35561271G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561271G>T Locations: - p.Ala374Ser (Ensembl:ENST00000373243) - c.1120G>T (Ensembl:ENST00000373243) - p.Ala374Ser (Ensembl:ENST00000356090) - c.1120G>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs200105021 | 374 | A>T | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.755) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35561271G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561271G>A Locations: - p.Ala374Thr (Ensembl:ENST00000373243) - c.1120G>A (Ensembl:ENST00000373243) - p.Ala374Thr (Ensembl:ENST00000356090) - c.1120G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs1571084520 | 375 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.941) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35561275T>G Codon: GTT/GGT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561275T>G Locations: - p.Val375Gly (Ensembl:ENST00000373243) - c.1124T>G (Ensembl:ENST00000373243) - p.Val375Gly (Ensembl:ENST00000356090) - c.1124T>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1330493557 | 376 | I>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000001.11:g.35561278T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561278T>C Locations: - p.Ile376Thr (Ensembl:ENST00000373243) - c.1127T>C (Ensembl:ENST00000373243) - p.Ile376Thr (Ensembl:ENST00000356090) - c.1127T>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1443345623 | 377 | H>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.322) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000001.11:g.35561282C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561282C>G Locations: - p.His377Gln (Ensembl:ENST00000373243) - c.1131C>G (Ensembl:ENST00000373243) - p.His377Gln (Ensembl:ENST00000356090) - c.1131C>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100357060 | 378 | Y>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35561285C>A Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561285C>A Locations: - p.Y378* (NCI-TCGA:ENST00000356090) - p.Tyr378Ter (cosmic curated:ENST00000356090) - c.1134C>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648696864 | 378 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35561284A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561284A>G Locations: - p.Tyr378Cys (Ensembl:ENST00000373243) - c.1133A>G (Ensembl:ENST00000373243) - p.Tyr378Cys (Ensembl:ENST00000356090) - c.1133A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1233051446 | 378 | Y>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.295) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000001.11:g.35561283T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561283T>C Locations: - p.Tyr378His (Ensembl:ENST00000373243) - c.1132T>C (Ensembl:ENST00000373243) - p.Tyr378His (Ensembl:ENST00000356090) - c.1132T>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1446776595 | 381 | Q>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.25) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35561293A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35561293A>T Locations: - p.Gln381Leu (Ensembl:ENST00000373243) - c.1142A>T (Ensembl:ENST00000373243) - p.Gln381Leu (Ensembl:ENST00000356090) - c.1142A>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV57846268 rs1571085352 | 382 | V>G | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000001.11:g.35562393T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562393T>G Locations: - p.Val382Gly (Ensembl:ENST00000373243) - c.1145T>G (Ensembl:ENST00000373243) - p.Val382Gly (Ensembl:ENST00000356090) - c.1145T>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs752994640 | 382 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.767) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.35562392G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562392G>C Locations: - p.Val382Leu (Ensembl:ENST00000373243) - c.1144G>C (Ensembl:ENST00000373243) - p.Val382Leu (Ensembl:ENST00000356090) - c.1144G>C (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs752994640 | 382 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000001.11:g.35562392G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562392G>A Locations: - p.Val382Met (Ensembl:ENST00000373243) - c.1144G>A (Ensembl:ENST00000373243) - p.Val382Met (Ensembl:ENST00000356090) - c.1144G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs756078567 | 383 | G>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000001.11:g.35562396G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562396G>A Locations: - p.Gly383Glu (Ensembl:ENST00000373243) - c.1148G>A (Ensembl:ENST00000373243) - p.Gly383Glu (Ensembl:ENST00000356090) - c.1148G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 383 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000001.11:g.35562395G>A Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562395G>A Locations: - c.1147G>A (NCI-TCGA:ENST00000356090) - p.G383R (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1042604216 | 388 | K>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (1) Somatic: No Accession: NC_000001.11:g.35562410A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562410A>C Locations: - p.Lys388Gln (Ensembl:ENST00000373243) - c.1162A>C (Ensembl:ENST00000373243) - p.Lys388Gln (Ensembl:ENST00000356090) - c.1162A>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs777917944 | 388 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000001.11:g.35562411A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562411A>G Locations: - p.Lys388Arg (Ensembl:ENST00000373243) - c.1163A>G (Ensembl:ENST00000373243) - p.Lys388Arg (Ensembl:ENST00000356090) - c.1163A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61935345 | 390 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35562416C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35562416C>T Locations: - p.Pro390Ser (cosmic curated:ENST00000356090) - c.1168C>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs935230807 | 391 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.439) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000001.11:g.35562419T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562419T>C Locations: - p.Phe391Leu (Ensembl:ENST00000373243) - c.1171T>C (Ensembl:ENST00000373243) - p.Phe391Leu (Ensembl:ENST00000356090) - c.1171T>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
VAR_039849 COSV61935740 rs753974779 | 392 | V>E | a colorectal cancer sample; somatic mutation (UniProt) | Variant of uncertain significance (UniProt) | UniProt cosmic curated ExAC dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35562423T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562423T>A Locations: - p.Val392Glu (UniProt:Q9UBB6) Source type: mixed Cross-references: | |||||||
VAR_039850 COSV61935735 | 392 | V>L | a colorectal cancer sample; somatic mutation (UniProt) | Variant of uncertain significance (UniProt) | UniProt cosmic curated | ||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35562422G>T Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562422G>T Locations: - p.Val392Leu (cosmic curated:ENST00000356090) - c.1174G>T (cosmic curated:ENST00000356090) - p.Val392Leu (UniProt:Q9UBB6) Source type: mixed Cross-references: | |||||||
rs1648733931 | 392 | V>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.468) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35562422G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562422G>A Locations: - p.Val392Met (Ensembl:ENST00000373243) - c.1174G>A (Ensembl:ENST00000373243) - p.Val392Met (Ensembl:ENST00000356090) - c.1174G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100622089 rs1571085379 | 395 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.344) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000001.11:g.35562432C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562432C>T Locations: - p.S395L (NCI-TCGA:ENST00000373243) - p.S395L (NCI-TCGA:ENST00000356090) - p.Ser395Leu (Ensembl:ENST00000373243) - c.1184C>T (Ensembl:ENST00000373243) - p.Ser395Leu (Ensembl:ENST00000356090) - c.1184C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61937279 | 396 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000001.11:g.35562434G>A Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562434G>A Locations: - p.V396M (NCI-TCGA:ENST00000356090) - p.Val396Met (cosmic curated:ENST00000356090) - c.1186G>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648734284 | 397 | R>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35562438G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562438G>T Locations: - p.Arg397Leu (Ensembl:ENST00000373243) - c.1190G>T (Ensembl:ENST00000373243) - p.Arg397Leu (Ensembl:ENST00000356090) - c.1190G>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61934656 | 397 | R>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35562438G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35562438G>A Locations: - p.Arg397Gln (cosmic curated:ENST00000356090) - c.1190G>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61936370 rs1229198411 | 397 | R>W | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000001.11:g.35562437C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562437C>T Locations: - p.Arg397Trp (Ensembl:ENST00000373243) - c.1189C>T (Ensembl:ENST00000373243) - p.Arg397Trp (Ensembl:ENST00000356090) - c.1189C>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV100621998 | 399 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000001.11:g.35562443C>A Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562443C>A Locations: - p.L399M (NCI-TCGA:ENST00000356090) - p.Leu399Met (cosmic curated:ENST00000356090) - c.1195C>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1557426894 | 403 | L>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.798) - SIFT: tolerated (0.81) Somatic: No Accession: NC_000001.11:g.35562455C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562455C>A Locations: - p.Leu403Met (Ensembl:ENST00000373243) - c.1207C>A (Ensembl:ENST00000373243) - p.Leu403Met (Ensembl:ENST00000356090) - c.1207C>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1223558987 | 405 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35562461G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562461G>A Locations: - p.Glu405Lys (Ensembl:ENST00000373243) - c.1213G>A (Ensembl:ENST00000373243) - p.Glu405Lys (Ensembl:ENST00000356090) - c.1213G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648734790 | 407 | T>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.569) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000001.11:g.35562467A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562467A>T Locations: - p.Thr407Ser (Ensembl:ENST00000373243) - c.1219A>T (Ensembl:ENST00000373243) - p.Thr407Ser (Ensembl:ENST00000356090) - c.1219A>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61935333 | 408 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.769) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000001.11:g.35562471C>T Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562471C>T Locations: - p.S408L (NCI-TCGA:ENST00000356090) - p.Ser408Leu (cosmic curated:ENST00000356090) - c.1223C>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61936231 | 409 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.916) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000001.11:g.35562474C>T Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562474C>T Locations: - p.S409F (NCI-TCGA:ENST00000356090) - p.Ser409Phe (cosmic curated:ENST00000356090) - c.1226C>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61934904 rs746183935 | 411 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.845) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.00001591 (gnomAD) Accession: NC_000001.11:g.35562479C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562479C>T Locations: - p.R411C (NCI-TCGA:ENST00000373243) - p.R411C (NCI-TCGA:ENST00000356090) - p.Arg411Cys (Ensembl:ENST00000373243) - c.1231C>T (Ensembl:ENST00000373243) - p.Arg411Cys (Ensembl:ENST00000356090) - c.1231C>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV61935751 COSV61936638 rs1347739249 | 411 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.802) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000003978 (gnomAD) Accession: NC_000001.11:g.35562480G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562480G>A Locations: - p.R411H (NCI-TCGA:ENST00000373243) - p.R411H (NCI-TCGA:ENST00000356090) - p.Arg411His (Ensembl:ENST00000373243) - c.1232G>A (Ensembl:ENST00000373243) - p.Arg411His (Ensembl:ENST00000356090) - c.1232G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV61936638 | 411 | R>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35562480G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35562480G>T Locations: - p.Arg411Leu (cosmic curated:ENST00000356090) - c.1232G>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs988414930 | 413 | E>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.168) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000001.11:g.35562487G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562487G>C Locations: - p.Glu413Asp (Ensembl:ENST00000373243) - c.1239G>C (Ensembl:ENST00000373243) - p.Glu413Asp (Ensembl:ENST00000356090) - c.1239G>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs771157715 | 414 | V>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.35562488G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562488G>T Locations: - p.Val414Leu (Ensembl:ENST00000373243) - c.1240G>T (Ensembl:ENST00000373243) - p.Val414Leu (Ensembl:ENST00000356090) - c.1240G>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61935257 rs771157715 | 414 | V>M | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.458) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000001.11:g.35562488G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562488G>A Locations: - p.Val414Met (Ensembl:ENST00000373243) - c.1240G>A (Ensembl:ENST00000373243) - p.Val414Met (Ensembl:ENST00000356090) - c.1240G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648735564 | 416 | Q>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.244) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000001.11:g.35562495A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562495A>T Locations: - p.Gln416Leu (Ensembl:ENST00000373243) - c.1247A>T (Ensembl:ENST00000373243) - p.Gln416Leu (Ensembl:ENST00000356090) - c.1247A>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1447898700 | 422 | V>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.215) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35562512G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562512G>T Locations: - p.Val422Phe (Ensembl:ENST00000373243) - c.1264G>T (Ensembl:ENST00000373243) - p.Val422Phe (Ensembl:ENST00000356090) - c.1264G>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV99049428 rs1447898700 | 422 | V>I | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.72) Somatic: Yes Accession: NC_000001.11:g.35562512G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562512G>A Locations: - p.Val422Ile (Ensembl:ENST00000373243) - c.1264G>A (Ensembl:ENST00000373243) - p.Val422Ile (Ensembl:ENST00000356090) - c.1264G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs374178078 | 423 | R>C | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000001.11:g.35562515C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562515C>T Locations: - p.Arg423Cys (Ensembl:ENST00000373243) - c.1267C>T (Ensembl:ENST00000373243) - p.Arg423Cys (Ensembl:ENST00000356090) - c.1267C>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs374178078 | 423 | R>G | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000001.11:g.35562515C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562515C>G Locations: - p.Arg423Gly (Ensembl:ENST00000373243) - c.1267C>G (Ensembl:ENST00000373243) - p.Arg423Gly (Ensembl:ENST00000356090) - c.1267C>G (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs200536942 | 423 | R>H | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (1) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000001.11:g.35562516G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562516G>A Locations: - p.Arg423His (Ensembl:ENST00000373243) - c.1268G>A (Ensembl:ENST00000373243) - p.Arg423His (Ensembl:ENST00000356090) - c.1268G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs200536942 | 423 | R>L | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.244) - SIFT: tolerated (0.7) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000001.11:g.35562516G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562516G>T Locations: - p.Arg423Leu (Ensembl:ENST00000373243) - c.1268G>T (Ensembl:ENST00000373243) - p.Arg423Leu (Ensembl:ENST00000356090) - c.1268G>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61937182 | 423 | R>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35562515C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35562515C>A Locations: - p.Arg423Ser (cosmic curated:ENST00000356090) - c.1267C>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 424 | Y>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35562518T>A Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562518T>A Locations: - c.1270T>A (NCI-TCGA:ENST00000356090) - p.Y424N (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV61935285 | 428 | L>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35562530C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35562530C>A Locations: - p.Leu428Ile (cosmic curated:ENST00000356090) - c.1282C>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61935067 rs998037805 | 429 | Y>C | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.692) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000001.11:g.35562534A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562534A>G Locations: - p.Tyr429Cys (Ensembl:ENST00000373243) - c.1286A>G (Ensembl:ENST00000373243) - p.Tyr429Cys (Ensembl:ENST00000356090) - c.1286A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs768250891 | 430 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.78) Somatic: No Accession: NC_000001.11:g.35562536G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562536G>A Locations: - p.Glu430Lys (Ensembl:ENST00000373243) - c.1288G>A (Ensembl:ENST00000373243) - p.Glu430Lys (Ensembl:ENST00000356090) - c.1288G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs776202085 | 431 | E>V | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.318) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000001.11:g.35562540A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562540A>T Locations: - p.Glu431Val (Ensembl:ENST00000373243) - c.1292A>T (Ensembl:ENST00000373243) - p.Glu431Val (Ensembl:ENST00000356090) - c.1292A>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100622015 | 433 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35562545G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35562545G>T Locations: - p.Glu433Ter (cosmic curated:ENST00000356090) - c.1297G>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs376408289 | 433 | E>K | Likely pathogenic (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.79) Somatic: No Accession: NC_000001.11:g.35562545G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562545G>A Locations: - p.Glu433Lys (Ensembl:ENST00000373243) - c.1297G>A (Ensembl:ENST00000373243) - p.Glu433Lys (Ensembl:ENST00000356090) - c.1297G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
VAR_085876 RCV001391338 RCV001526833 rs376408289 | 433 | E>Q | NEDIES; uncertain significance; in the neuroblastoma cell line SH-SY5Y, in which NCDN has been knocked out, does not rescue impaired neurite formation following retinoic acid treatment, contrary to wild-type; no effect on phosphorylation of ERK1/ERK2 (UniProt) Intellectual disability (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | UniProt ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.134) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000001.11:g.35562545G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562545G>C Locations: - p.Glu433Gln (Ensembl:ENST00000373243) - c.1297G>C (Ensembl:ENST00000373243) - p.Glu433Gln (Ensembl:ENST00000356090) - c.1297G>C (Ensembl:ENST00000356090) - p.Glu433Gln (UniProt:Q9UBB6) Disease association: - Intellectual disability - Neurodevelopmental disorder with infantile epileptic spasms (NEDIES) Source type: mixed | |||||||
rs1648737254 | 434 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.85) Somatic: No Accession: NC_000001.11:g.35562548G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562548G>A Locations: - p.Glu434Lys (Ensembl:ENST00000373243) - c.1300G>A (Ensembl:ENST00000373243) - p.Glu434Lys (Ensembl:ENST00000356090) - c.1300G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1157891472 | 436 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.73) Somatic: No Accession: NC_000001.11:g.35562555A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562555A>G Locations: - p.Asn436Ser (Ensembl:ENST00000373243) - c.1307A>G (Ensembl:ENST00000373243) - p.Asn436Ser (Ensembl:ENST00000356090) - c.1307A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs773302140 | 438 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.896) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000001.11:g.35562560C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562560C>T Locations: - p.Leu438Phe (Ensembl:ENST00000373243) - c.1312C>T (Ensembl:ENST00000373243) - p.Leu438Phe (Ensembl:ENST00000356090) - c.1312C>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs773302140 | 438 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.091) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000001.11:g.35562560C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562560C>G Locations: - p.Leu438Val (Ensembl:ENST00000373243) - c.1312C>G (Ensembl:ENST00000373243) - p.Leu438Val (Ensembl:ENST00000356090) - c.1312C>G (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV100622061 | 441 | Q>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35562571G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35562571G>T Locations: - p.Gln441His (cosmic curated:ENST00000356090) - c.1323G>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61934965 | 441 | Q>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35562569C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35562569C>A Locations: - p.Gln441Lys (cosmic curated:ENST00000356090) - c.1321C>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1454208959 | 442 | V>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000001.11:g.35562572G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562572G>A Locations: - p.Val442Met (Ensembl:ENST00000373243) - c.1324G>A (Ensembl:ENST00000373243) - p.Val442Met (Ensembl:ENST00000356090) - c.1324G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100621876 rs762796673 | 443 | A>V | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.312) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000001.11:g.35562576C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562576C>T Locations: - p.Ala443Val (Ensembl:ENST00000373243) - c.1328C>T (Ensembl:ENST00000373243) - p.Ala443Val (Ensembl:ENST00000356090) - c.1328C>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV105258556 | 444 | N>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35562579A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35562579A>G Locations: - p.Asn444Ser (cosmic curated:ENST00000356090) - c.1331A>G (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs766199700 | 447 | I>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.351) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000001.11:g.35562589C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562589C>G Locations: - p.Ile447Met (Ensembl:ENST00000373243) - c.1341C>G (Ensembl:ENST00000373243) - p.Ile447Met (Ensembl:ENST00000356090) - c.1341C>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61934732 | 448 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35562591C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35562591C>T Locations: - p.Ser448Phe (cosmic curated:ENST00000356090) - c.1343C>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100621974 | 448 | S>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.632) - SIFT: tolerated (0.22) Somatic: Yes Accession: NC_000001.11:g.35562590T>C Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562590T>C Locations: - p.S448P (NCI-TCGA:ENST00000356090) - p.Ser448Pro (cosmic curated:ENST00000356090) - c.1342T>C (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61935728 | 449 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000001.11:g.35562594C>T Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562594C>T Locations: - p.P449L (NCI-TCGA:ENST00000356090) - p.Pro449Leu (cosmic curated:ENST00000356090) - c.1346C>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61934889 rs142794758 | 450 | T>I | Likely benign (Ensembl) | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000001.11:g.35562597C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562597C>T Locations: - p.Thr450Ile (Ensembl:ENST00000373243) - c.1349C>T (Ensembl:ENST00000373243) - p.Thr450Ile (Ensembl:ENST00000356090) - c.1349C>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV61934732 | 450 | T>P | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: frameshift Somatic: Yes Accession: NC_000001.11:g.35562591del Consequence type: frameshift Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562591del Locations: - c.1347del (NCI-TCGA:ENST00000356090) - p.T450Pfs*22 (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1571085548 | 451 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000001.11:g.35562600C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562600C>T Locations: - p.Thr451Ile (Ensembl:ENST00000373243) - c.1352C>T (Ensembl:ENST00000373243) - p.Thr451Ile (Ensembl:ENST00000356090) - c.1352C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV108187752 | 453 | G>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35562606G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35562606G>A Locations: - p.Gly453Glu (cosmic curated:ENST00000356090) - c.1358G>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs141279967 | 453 | G>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000001.11:g.35562605G>C, NC_000001.11:g.35562605G>A Codon: GGG/CGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562605G>C, NC_000001.11:g.35562605G>A Locations: - p.Gly453Arg (Ensembl:ENST00000373243) - c.1357G>C (Ensembl:ENST00000373243) - p.Gly453Arg (Ensembl:ENST00000356090) - c.1357G>C (Ensembl:ENST00000356090) - c.1357G>A (Ensembl:ENST00000373243) - c.1357G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV61936995 | 456 | W>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35562616G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35562616G>A Locations: - p.Trp456Ter (cosmic curated:ENST00000356090) - c.1368G>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648739101 | 457 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.296) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.35562618C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562618C>T Locations: - p.Pro457Leu (Ensembl:ENST00000373243) - c.1370C>T (Ensembl:ENST00000373243) - p.Pro457Leu (Ensembl:ENST00000356090) - c.1370C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648739267 | 458 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.157) - SIFT: tolerated (0.93) Somatic: No Accession: NC_000001.11:g.35562620G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562620G>A Locations: - p.Gly458Arg (Ensembl:ENST00000373243) - c.1372G>A (Ensembl:ENST00000373243) - p.Gly458Arg (Ensembl:ENST00000356090) - c.1372G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648739522 | 459 | D>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35562624A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562624A>C Locations: - p.Asp459Ala (Ensembl:ENST00000373243) - c.1376A>C (Ensembl:ENST00000373243) - p.Asp459Ala (Ensembl:ENST00000356090) - c.1376A>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1351911818 | 459 | D>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.266) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35562623G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562623G>C Locations: - p.Asp459His (Ensembl:ENST00000373243) - c.1375G>C (Ensembl:ENST00000373243) - p.Asp459His (Ensembl:ENST00000356090) - c.1375G>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100621931 rs758633602 | 460 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.866) - SIFT: deleterious (0.01) Somatic: Yes Population frequencies: - MAF: 0.000004023 (gnomAD) Accession: NC_000001.11:g.35562626G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562626G>A Locations: - p.A460T (NCI-TCGA:ENST00000373243) - p.A460T (NCI-TCGA:ENST00000356090) - p.Ala460Thr (Ensembl:ENST00000373243) - c.1378G>A (Ensembl:ENST00000373243) - p.Ala460Thr (Ensembl:ENST00000356090) - c.1378G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
TCGA novel | 462 | R>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35562633G>T Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562633G>T Locations: - c.1385G>T (NCI-TCGA:ENST00000356090) - p.R462L (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV105918235 rs1276198303 | 462 | R>Q | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.736) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000001.11:g.35562633G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562633G>A Locations: - p.Arg462Gln (Ensembl:ENST00000373243) - c.1385G>A (Ensembl:ENST00000373243) - p.Arg462Gln (Ensembl:ENST00000356090) - c.1385G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61937535 rs1490243053 | 462 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000004037 (gnomAD) Accession: NC_000001.11:g.35562632C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35562632C>T Locations: - p.R462W (NCI-TCGA:ENST00000373243) - p.R462W (NCI-TCGA:ENST00000356090) - p.Arg462Trp (Ensembl:ENST00000373243) - c.1384C>T (Ensembl:ENST00000373243) - p.Arg462Trp (Ensembl:ENST00000356090) - c.1384C>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs780949774 | 467 | G>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.326) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35563216G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563216G>T Locations: - p.Gly467Val (Ensembl:ENST00000373243) - c.1400G>T (Ensembl:ENST00000373243) - p.Gly467Val (Ensembl:ENST00000356090) - c.1400G>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61936878 rs956053377 | 473 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000007966 (gnomAD) Accession: NC_000001.11:g.35563233G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563233G>A Locations: - p.V473I (NCI-TCGA:ENST00000373243) - p.V473I (NCI-TCGA:ENST00000356090) - p.Val473Ile (Ensembl:ENST00000373243) - c.1417G>A (Ensembl:ENST00000373243) - p.Val473Ile (Ensembl:ENST00000356090) - c.1417G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
TCGA novel | 474 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35563236G>A Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563236G>A Locations: - c.1420G>A (NCI-TCGA:ENST00000356090) - p.E474K (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV61935236 | 477 | P>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000001.11:g.35563246C>A Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563246C>A Locations: - p.P477H (NCI-TCGA:ENST00000356090) - p.Pro477His (cosmic curated:ENST00000356090) - c.1430C>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs748812666 | 477 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.511) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35563246C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563246C>T Locations: - p.Pro477Leu (Ensembl:ENST00000373243) - c.1430C>T (Ensembl:ENST00000373243) - p.Pro477Leu (Ensembl:ENST00000356090) - c.1430C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs966846201 | 477 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.511) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000001.11:g.35563245C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563245C>T Locations: - p.Pro477Ser (Ensembl:ENST00000373243) - c.1429C>T (Ensembl:ENST00000373243) - p.Pro477Ser (Ensembl:ENST00000356090) - c.1429C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
VAR_085877 RCV001391339 RCV001526832 rs1305972382 | 478 | R>Q | NEDIES; in the neuroblastoma cell line SH-SY5Y, in which NCDN has been knocked out, does not rescue impaired neurite formation following retinoic acid treatment, contrary to wild-type; no effect on phosphorylation of ERK1/ERK2 (UniProt) Cerebellar ataxia (ClinVar) | Pathogenic (UniProt) | UniProt ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.35563249G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563249G>A Locations: - p.Arg478Gln (Ensembl:ENST00000373243) - c.1433G>A (Ensembl:ENST00000373243) - p.Arg478Gln (Ensembl:ENST00000356090) - c.1433G>A (Ensembl:ENST00000356090) - p.Arg478Gln (UniProt:Q9UBB6) Disease association: - Cerebellar ataxia - Intellectual disability - Neurodevelopmental disorder with infantile epileptic spasms (NEDIES) Source type: mixed Cross-references: | |||||||
rs374733075 | 478 | R>W | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35563248C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563248C>T Locations: - p.Arg478Trp (Ensembl:ENST00000373243) - c.1432C>T (Ensembl:ENST00000373243) - p.Arg478Trp (Ensembl:ENST00000356090) - c.1432C>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV106507634 rs1648761978 | 479 | E>K | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.96) Somatic: Yes Accession: NC_000001.11:g.35563251G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563251G>A Locations: - p.Glu479Lys (Ensembl:ENST00000373243) - c.1435G>A (Ensembl:ENST00000373243) - p.Glu479Lys (Ensembl:ENST00000356090) - c.1435G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs774201737 | 480 | I>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.118) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000001.11:g.35563254A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563254A>C Locations: - p.Ile480Leu (Ensembl:ENST00000373243) - c.1438A>C (Ensembl:ENST00000373243) - p.Ile480Leu (Ensembl:ENST00000356090) - c.1438A>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61935432 | 480 | I>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.879) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000001.11:g.35563255T>A Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563255T>A Locations: - p.I480N (NCI-TCGA:ENST00000356090) - p.Ile480Asn (cosmic curated:ENST00000356090) - c.1439T>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648762179 | 482 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.922) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000001.11:g.35563262C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563262C>G Locations: - p.Ile482Met (Ensembl:ENST00000373243) - c.1446C>G (Ensembl:ENST00000373243) - p.Ile482Met (Ensembl:ENST00000356090) - c.1446C>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1461541404 | 483 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000001.11:g.35563263A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563263A>G Locations: - p.Lys483Glu (Ensembl:ENST00000373243) - c.1447A>G (Ensembl:ENST00000373243) - p.Lys483Glu (Ensembl:ENST00000356090) - c.1447A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs745639355 | 485 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35563269G>C Codon: GGG/CGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563269G>C Locations: - p.Gly485Arg (Ensembl:ENST00000373243) - c.1453G>C (Ensembl:ENST00000373243) - p.Gly485Arg (Ensembl:ENST00000356090) - c.1453G>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61934869 | 487 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.607) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000001.11:g.35563275C>T Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563275C>T Locations: - p.P487S (NCI-TCGA:ENST00000356090) - p.Pro487Ser (cosmic curated:ENST00000356090) - c.1459C>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV105918234 rs762010739 | 488 | S>L | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000001.11:g.35563279C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563279C>T Locations: - p.Ser488Leu (Ensembl:ENST00000373243) - c.1463C>T (Ensembl:ENST00000373243) - p.Ser488Leu (Ensembl:ENST00000356090) - c.1463C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 491 | C>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.916) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000001.11:g.35563288G>A Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563288G>A Locations: - c.1472G>A (NCI-TCGA:ENST00000356090) - p.C491Y (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV100622237 rs773247590 | 492 | K>N | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000001.11:g.35563292G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563292G>C Locations: - p.Lys492Asn (Ensembl:ENST00000373243) - c.1476G>C (Ensembl:ENST00000373243) - p.Lys492Asn (Ensembl:ENST00000356090) - c.1476G>C (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV61937343 | 498 | W>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35563309G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35563309G>T Locations: - p.Trp498Leu (cosmic curated:ENST00000356090) - c.1493G>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
VAR_085878 RCV001391340 RCV001526830 rs2148539394 | 498 | W>R | NEDIES; in the neuroblastoma cell line SH-SY5Y, in which NCDN has been knocked out, does not rescue impaired neurite formation following retinoic acid treatment, contrary to wild-type; in these cells, there is markedly decreased phosphorylation of ERK1/ERK2, compared to wild-type, suggesting impaired GRM5 activation (UniProt) Intellectual disability (ClinVar) Neurodevelopmental disorder with infantile epileptic spasms (ClinVar) | Pathogenic (Ensembl, ClinVar) | UniProt ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35563308T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563308T>C Locations: - p.Trp498Arg (Ensembl:ENST00000373243) - c.1492T>C (Ensembl:ENST00000373243) - p.Trp498Arg (Ensembl:ENST00000356090) - c.1492T>C (Ensembl:ENST00000356090) - p.Trp498Arg (UniProt:Q9UBB6) Disease association: - Intellectual disability - Neurodevelopmental disorder with infantile epileptic spasms - Neurodevelopmental disorder with infantile epileptic spasms (NEDIES) Source type: mixed Cross-references: | |||||||
rs1648765205 | 500 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.407) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000001.11:g.35563314C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563314C>T Locations: - p.Leu500Phe (Ensembl:ENST00000373243) - c.1498C>T (Ensembl:ENST00000373243) - p.Leu500Phe (Ensembl:ENST00000356090) - c.1498C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61934681 | 501 | T>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35563318C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35563318C>T Locations: - p.Thr501Ile (cosmic curated:ENST00000356090) - c.1502C>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs766859600 | 502 | S>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000001.11:g.35563320T>G Codon: TCC/GCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563320T>G Locations: - p.Ser502Ala (Ensembl:ENST00000373243) - c.1504T>G (Ensembl:ENST00000373243) - p.Ser502Ala (Ensembl:ENST00000356090) - c.1504T>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV104660347 | 502 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35563321C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35563321C>T Locations: - p.Ser502Phe (cosmic curated:ENST00000356090) - c.1505C>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648765574 | 503 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000001.11:g.35563323C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563323C>T Locations: - p.Pro503Ser (Ensembl:ENST00000373243) - c.1507C>T (Ensembl:ENST00000373243) - p.Pro503Ser (Ensembl:ENST00000356090) - c.1507C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 503 | P>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000001.11:g.35563323C>A Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563323C>A Locations: - c.1507C>A (NCI-TCGA:ENST00000356090) - p.P503T (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs768006525 | 506 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.46) Somatic: No Population frequencies: - MAF: 0.00001193 (gnomAD) Accession: NC_000001.11:g.35563332G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563332G>A Locations: - p.D506N (NCI-TCGA:ENST00000373243) - p.D506N (NCI-TCGA:ENST00000356090) - p.Asp506Asn (Ensembl:ENST00000373243) - c.1516G>A (Ensembl:ENST00000373243) - p.Asp506Asn (Ensembl:ENST00000356090) - c.1516G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs1648765837 | 507 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.094) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000001.11:g.35563336C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563336C>T Locations: - p.Thr507Ile (Ensembl:ENST00000373243) - c.1520C>T (Ensembl:ENST00000373243) - p.Thr507Ile (Ensembl:ENST00000356090) - c.1520C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61936927 rs753167349 | 508 | S>L | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.163) - SIFT: tolerated (0.52) Somatic: Yes Accession: NC_000001.11:g.35563339C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563339C>T Locations: - p.Ser508Leu (Ensembl:ENST00000373243) - c.1523C>T (Ensembl:ENST00000373243) - p.Ser508Leu (Ensembl:ENST00000356090) - c.1523C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100621879 | 511 | P>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.515) - SIFT: tolerated (0.42) Somatic: Yes Accession: NC_000001.11:g.35563348C>A Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563348C>A Locations: - p.P511H (NCI-TCGA:ENST00000356090) - p.Pro511His (cosmic curated:ENST00000356090) - c.1532C>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs571289950 | 514 | V>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000001.11:g.35563356G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563356G>C Locations: - p.Val514Leu (Ensembl:ENST00000373243) - c.1540G>C (Ensembl:ENST00000373243) - p.Val514Leu (Ensembl:ENST00000356090) - c.1540G>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61936853 rs571289950 | 514 | V>M | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.625) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000001.11:g.35563356G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563356G>A Locations: - p.Val514Met (Ensembl:ENST00000373243) - c.1540G>A (Ensembl:ENST00000373243) - p.Val514Met (Ensembl:ENST00000356090) - c.1540G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs149457796 | 515 | E>K | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.874) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35563359G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563359G>A Locations: - p.Glu515Lys (Ensembl:ENST00000373243) - c.1543G>A (Ensembl:ENST00000373243) - p.Glu515Lys (Ensembl:ENST00000356090) - c.1543G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1253320811 | 516 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (1) Somatic: No Accession: NC_000001.11:g.35563364T>G Codon: ATT/ATG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563364T>G Locations: - p.Ile516Met (Ensembl:ENST00000373243) - c.1548T>G (Ensembl:ENST00000373243) - p.Ile516Met (Ensembl:ENST00000356090) - c.1548T>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs538755303 | 516 | I>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.09) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000001.11:g.35563363T>G Codon: ATT/AGT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563363T>G Locations: - p.Ile516Ser (Ensembl:ENST00000373243) - c.1547T>G (Ensembl:ENST00000373243) - p.Ile516Ser (Ensembl:ENST00000356090) - c.1547T>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs538755303 | 516 | I>T | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.1) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000001.11:g.35563363T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563363T>C Locations: - p.Ile516Thr (Ensembl:ENST00000373243) - c.1547T>C (Ensembl:ENST00000373243) - p.Ile516Thr (Ensembl:ENST00000356090) - c.1547T>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs745810704 | 517 | G>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000001.11:g.35563366G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563366G>C Locations: - p.Gly517Ala (Ensembl:ENST00000373243) - c.1550G>C (Ensembl:ENST00000373243) - p.Gly517Ala (Ensembl:ENST00000356090) - c.1550G>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1571086161 | 520 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35563374A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563374A>C Locations: - p.Thr520Pro (Ensembl:ENST00000373243) - c.1558A>C (Ensembl:ENST00000373243) - p.Thr520Pro (Ensembl:ENST00000356090) - c.1558A>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1287121623 | 526 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35563392C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563392C>G Locations: - p.Leu526Val (Ensembl:ENST00000373243) - c.1576C>G (Ensembl:ENST00000373243) - p.Leu526Val (Ensembl:ENST00000356090) - c.1576C>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs76895472 | 527 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35563396A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563396A>G Locations: - p.Asn527Ser (Ensembl:ENST00000373243) - c.1580A>G (Ensembl:ENST00000373243) - p.Asn527Ser (Ensembl:ENST00000356090) - c.1580A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1212078626 | 529 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.86) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35563401G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563401G>A Locations: - p.Val529Met (Ensembl:ENST00000373243) - c.1585G>A (Ensembl:ENST00000373243) - p.Val529Met (Ensembl:ENST00000356090) - c.1585G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs867781298 | 532 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.492) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000001.11:g.35563410G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563410G>A Locations: - p.Ala532Thr (Ensembl:ENST00000373243) - c.1594G>A (Ensembl:ENST00000373243) - p.Ala532Thr (Ensembl:ENST00000356090) - c.1594G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648768282 | 533 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35563414C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563414C>T Locations: - p.Pro533Leu (Ensembl:ENST00000373243) - c.1598C>T (Ensembl:ENST00000373243) - p.Pro533Leu (Ensembl:ENST00000356090) - c.1598C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV107417881 | 533 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35563413C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35563413C>T Locations: - p.Pro533Ser (cosmic curated:ENST00000356090) - c.1597C>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61936839 | 535 | L>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35563418G> Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35563418G> Locations: - p.Leu535Ter (cosmic curated:ENST00000356090) - c.1602del (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61934773 | 536 | I>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.516) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000001.11:g.35563423T>G Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563423T>G Locations: - p.I536S (NCI-TCGA:ENST00000356090) - p.Ile536Ser (cosmic curated:ENST00000356090) - c.1607T>G (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1301160018 | 537 | K>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.784) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35563426A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563426A>T Locations: - p.Lys537Met (Ensembl:ENST00000373243) - c.1610A>T (Ensembl:ENST00000373243) - p.Lys537Met (Ensembl:ENST00000356090) - c.1610A>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV105258540 rs1648781662 | 537 | K>N | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.276) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000001.11:g.35563767G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563767G>C Locations: - p.Lys537Asn (Ensembl:ENST00000373243) - c.1611G>C (Ensembl:ENST00000373243) - p.Lys537Asn (Ensembl:ENST00000356090) - c.1611G>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61936311 rs1648781752 | 538 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.692) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000001.11:g.35563768C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563768C>T Locations: - p.R538C (NCI-TCGA:ENST00000373243) - p.R538C (NCI-TCGA:ENST00000356090) - p.Arg538Cys (Ensembl:ENST00000373243) - c.1612C>T (Ensembl:ENST00000373243) - p.Arg538Cys (Ensembl:ENST00000356090) - c.1612C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV105258539 rs911036691 | 538 | R>H | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.428) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000001.11:g.35563769G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563769G>A Locations: - p.Arg538His (Ensembl:ENST00000373243) - c.1613G>A (Ensembl:ENST00000373243) - p.Arg538His (Ensembl:ENST00000356090) - c.1613G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs147373266 | 539 | D>E | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000001.11:g.35563773C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563773C>G Locations: - p.Asp539Glu (Ensembl:ENST00000373243) - c.1617C>G (Ensembl:ENST00000373243) - p.Asp539Glu (Ensembl:ENST00000356090) - c.1617C>G (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs777983350 | 540 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.074) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000001.11:g.35563774G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563774G>A Locations: - p.Ala540Thr (Ensembl:ENST00000373243) - c.1618G>A (Ensembl:ENST00000373243) - p.Ala540Thr (Ensembl:ENST00000356090) - c.1618G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV61934553 | 541 | C>W | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35563779C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35563779C>G Locations: - p.Cys541Trp (cosmic curated:ENST00000356090) - c.1623C>G (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648782310 | 543 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000001.11:g.35563783A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563783A>G Locations: - p.Thr543Ala (Ensembl:ENST00000373243) - c.1627A>G (Ensembl:ENST00000373243) - p.Thr543Ala (Ensembl:ENST00000356090) - c.1627A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 543 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000001.11:g.35563784C>T Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563784C>T Locations: - c.1628C>T (NCI-TCGA:ENST00000356090) - p.T543I (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1335645746 | 544 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.784) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35563787C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563787C>G Locations: - p.Ser544Cys (Ensembl:ENST00000373243) - c.1631C>G (Ensembl:ENST00000373243) - p.Ser544Cys (Ensembl:ENST00000356090) - c.1631C>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648782578 | 546 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.129) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000001.11:g.35563794G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563794G>A Locations: - p.Met546Ile (Ensembl:ENST00000373243) - c.1638G>A (Ensembl:ENST00000373243) - p.Met546Ile (Ensembl:ENST00000356090) - c.1638G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648782909 | 550 | M>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000001.11:g.35563804A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563804A>G Locations: - p.Met550Val (Ensembl:ENST00000373243) - c.1648A>G (Ensembl:ENST00000373243) - p.Met550Val (Ensembl:ENST00000356090) - c.1648A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61937637 rs1302736618 | 551 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.625) - SIFT: deleterious (0.01) Somatic: Yes Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000001.11:g.35563808C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563808C>T Locations: - p.T551M (NCI-TCGA:ENST00000373243) - p.T551M (NCI-TCGA:ENST00000356090) - p.Thr551Met (Ensembl:ENST00000373243) - c.1652C>T (Ensembl:ENST00000373243) - p.Thr551Met (Ensembl:ENST00000356090) - c.1652C>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs749484417 | 551 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.086) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000001.11:g.35563807A>T Codon: ACG/TCG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563807A>T Locations: - p.Thr551Ser (Ensembl:ENST00000373243) - c.1651A>T (Ensembl:ENST00000373243) - p.Thr551Ser (Ensembl:ENST00000356090) - c.1651A>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100621999 rs1648783330 | 552 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.055) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000001.11:g.35563811C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563811C>T Locations: - p.S552L (NCI-TCGA:ENST00000373243) - p.S552L (NCI-TCGA:ENST00000356090) - p.Ser552Leu (Ensembl:ENST00000373243) - c.1655C>T (Ensembl:ENST00000373243) - p.Ser552Leu (Ensembl:ENST00000356090) - c.1655C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 555 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000001.11:g.35563819G>A Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563819G>A Locations: - c.1663G>A (NCI-TCGA:ENST00000356090) - p.A555T (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs200493007 | 557 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (1) Somatic: No Accession: NC_000001.11:g.35563825G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563825G>C Locations: - p.Val557Leu (Ensembl:ENST00000373243) - c.1669G>C (Ensembl:ENST00000373243) - p.Val557Leu (Ensembl:ENST00000356090) - c.1669G>C (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV61934908 | 558 | Q>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35563830G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35563830G>T Locations: - p.Gln558His (cosmic curated:ENST00000356090) - c.1674G>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648785440 | 558 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.176) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000001.11:g.35563829A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563829A>G Locations: - p.Gln558Arg (Ensembl:ENST00000373243) - c.1673A>G (Ensembl:ENST00000373243) - p.Gln558Arg (Ensembl:ENST00000356090) - c.1673A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs761056103 | 560 | Q>E | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000001.11:g.35563834C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563834C>G Locations: - p.Gln560Glu (Ensembl:ENST00000373243) - c.1678C>G (Ensembl:ENST00000373243) - p.Gln560Glu (Ensembl:ENST00000356090) - c.1678C>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61935077 | 561 | G>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35563838G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35563838G>T Locations: - p.Gly561Val (cosmic curated:ENST00000356090) - c.1682G>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs764383759 | 562 | R>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.176) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000001.11:g.35563840A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563840A>G Locations: - p.Arg562Gly (Ensembl:ENST00000373243) - c.1684A>G (Ensembl:ENST00000373243) - p.Arg562Gly (Ensembl:ENST00000356090) - c.1684A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1202844460 | 564 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.647) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35563847T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563847T>C Locations: - p.Leu564Pro (Ensembl:ENST00000373243) - c.1691T>C (Ensembl:ENST00000373243) - p.Leu564Pro (Ensembl:ENST00000356090) - c.1691T>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1307839644 | 564 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (1) Somatic: No Accession: NC_000001.11:g.35563846C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563846C>G Locations: - p.Leu564Val (Ensembl:ENST00000373243) - c.1690C>G (Ensembl:ENST00000373243) - p.Leu564Val (Ensembl:ENST00000356090) - c.1690C>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1201815463 | 565 | L>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35563850T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563850T>G Locations: - p.Leu565Arg (Ensembl:ENST00000373243) - c.1694T>G (Ensembl:ENST00000373243) - p.Leu565Arg (Ensembl:ENST00000356090) - c.1694T>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs777114789 | 566 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.229) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000001.11:g.35563852G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563852G>T Locations: - p.Ala566Ser (Ensembl:ENST00000373243) - c.1696G>T (Ensembl:ENST00000373243) - p.Ala566Ser (Ensembl:ENST00000356090) - c.1696G>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61936100 | 571 | T>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35563868C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35563868C>T Locations: - p.Thr571Ile (cosmic curated:ENST00000356090) - c.1712C>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100622177 | 574 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000001.11:g.35563876C>A Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563876C>A Locations: - p.L574I (NCI-TCGA:ENST00000356090) - p.Leu574Ile (cosmic curated:ENST00000356090) - c.1720C>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1179737808 | 577 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.539) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.35563885G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563885G>A Locations: - p.Ala577Thr (Ensembl:ENST00000373243) - c.1729G>A (Ensembl:ENST00000373243) - p.Ala577Thr (Ensembl:ENST00000356090) - c.1729G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 580 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.762) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000001.11:g.35563894C>A Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563894C>A Locations: - c.1738C>A (NCI-TCGA:ENST00000356090) - p.L580I (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1474691583 | 582 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000001.11:g.35563900A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563900A>G Locations: - p.Thr582Ala (Ensembl:ENST00000373243) - c.1744A>G (Ensembl:ENST00000373243) - p.Thr582Ala (Ensembl:ENST00000356090) - c.1744A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1163229989 | 583 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000001.11:g.35563903T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563903T>C Locations: - p.Ser583Pro (Ensembl:ENST00000373243) - c.1747T>C (Ensembl:ENST00000373243) - p.Ser583Pro (Ensembl:ENST00000356090) - c.1747T>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs760497699 | 583 | S>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000001.11:g.35563904C>A Codon: TCT/TAT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563904C>A Locations: - p.Ser583Tyr (Ensembl:ENST00000373243) - c.1748C>A (Ensembl:ENST00000373243) - p.Ser583Tyr (Ensembl:ENST00000356090) - c.1748C>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100622187 | 584 | P>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.11) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000001.11:g.35563906C>A Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35563906C>A Locations: - p.P584T (NCI-TCGA:ENST00000356090) - p.Pro584Thr (cosmic curated:ENST00000356090) - c.1750C>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs747509009 | 585 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000001.11:g.35565227C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565227C>G Locations: - p.Ala585Gly (Ensembl:ENST00000373243) - c.1754C>G (Ensembl:ENST00000373243) - p.Ala585Gly (Ensembl:ENST00000356090) - c.1754C>G (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV61936221 | 585 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35565227C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35565227C>T Locations: - p.Ala585Val (cosmic curated:ENST00000356090) - c.1754C>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 588 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000001.11:g.35565236G>A Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565236G>A Locations: - c.1763G>A (NCI-TCGA:ENST00000356090) - p.G588E (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 589 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.746) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000001.11:g.35565239C>T Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565239C>T Locations: - c.1766C>T (NCI-TCGA:ENST00000356090) - p.T589I (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1648833506 | 590 | P>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (1) Somatic: No Accession: NC_000001.11:g.35565241C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565241C>G Locations: - p.Pro590Ala (Ensembl:ENST00000373243) - c.1768C>G (Ensembl:ENST00000373243) - p.Pro590Ala (Ensembl:ENST00000356090) - c.1768C>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 591 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000001.11:g.35565244G>A Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565244G>A Locations: - c.1771G>A (NCI-TCGA:ENST00000356090) - p.A591T (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV61935563 | 593 | R>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35565250C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35565250C>T Locations: - p.Arg593Ter (cosmic curated:ENST00000356090) - c.1777C>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61937014 | 593 | R>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35565251G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35565251G>A Locations: - p.Arg593Gln (cosmic curated:ENST00000356090) - c.1778G>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100622094 COSV61936028 | 594 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000001.11:g.35565254G>A Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565254G>A Locations: - p.G594E (NCI-TCGA:ENST00000356090) - p.Gly594Glu (cosmic curated:ENST00000356090) - c.1781G>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100622092 | 594 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.55) Somatic: Yes Accession: NC_000001.11:g.35565253G>A Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565253G>A Locations: - p.G594R (NCI-TCGA:ENST00000356090) - p.Gly594Arg (cosmic curated:ENST00000356090) - c.1780G>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61936028 | 594 | G>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35565254G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35565254G>T Locations: - p.Gly594Val (cosmic curated:ENST00000356090) - c.1781G>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648833720 | 595 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.171) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35565256T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565256T>C Locations: - p.Phe595Leu (Ensembl:ENST00000373243) - c.1783T>C (Ensembl:ENST00000373243) - p.Phe595Leu (Ensembl:ENST00000356090) - c.1783T>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1197796445 | 597 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.134) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000001.11:g.35565262G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565262G>A Locations: - p.Ala597Thr (Ensembl:ENST00000373243) - c.1789G>A (Ensembl:ENST00000373243) - p.Ala597Thr (Ensembl:ENST00000356090) - c.1789G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61935612 | 598 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35565265G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35565265G>A Locations: - p.Ala598Thr (cosmic curated:ENST00000356090) - c.1792G>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1244607623 | 599 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.554) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000001.11:g.35565269C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565269C>T Locations: - p.Ala599Val (Ensembl:ENST00000373243) - c.1796C>T (Ensembl:ENST00000373243) - p.Ala599Val (Ensembl:ENST00000356090) - c.1796C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100622095 | 600 | I>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35565271A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35565271A>T Locations: - p.Ile600Phe (cosmic curated:ENST00000356090) - c.1798A>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1172785202 | 600 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.119) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000001.11:g.35565271A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565271A>G Locations: - p.Ile600Val (Ensembl:ENST00000373243) - c.1798A>G (Ensembl:ENST00000373243) - p.Ile600Val (Ensembl:ENST00000356090) - c.1798A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV105918227 | 602 | F>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35565277T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35565277T>A Locations: - p.Phe602Ile (cosmic curated:ENST00000356090) - c.1804T>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61937265 | 605 | Q>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35565288G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35565288G>T Locations: - p.Gln605His (cosmic curated:ENST00000356090) - c.1815G>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61935207 rs147694879 | 608 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: tolerated (0.08) Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000001.11:g.35565295G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565295G>A Locations: - p.V608M (NCI-TCGA:ENST00000373243) - p.V608M (NCI-TCGA:ENST00000356090) - p.Val608Met (Ensembl:ENST00000373243) - c.1822G>A (Ensembl:ENST00000373243) - p.Val608Met (Ensembl:ENST00000356090) - c.1822G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV61934540 rs1012827506 | 609 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.853) - SIFT: tolerated (0.16) Somatic: Yes Population frequencies: - MAF: 0.000003985 (gnomAD) Accession: NC_000001.11:g.35565299C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565299C>T Locations: - p.A609V (NCI-TCGA:ENST00000373243) - p.A609V (NCI-TCGA:ENST00000356090) - p.Ala609Val (Ensembl:ENST00000373243) - c.1826C>T (Ensembl:ENST00000373243) - p.Ala609Val (Ensembl:ENST00000356090) - c.1826C>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV61935314 rs762381306 | 610 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (1) Somatic: Yes Population frequencies: - MAF: 0.00001196 (gnomAD) Accession: NC_000001.11:g.35565302G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565302G>A Locations: - p.R610Q (NCI-TCGA:ENST00000373243) - p.R610Q (NCI-TCGA:ENST00000356090) - p.Arg610Gln (Ensembl:ENST00000373243) - c.1829G>A (Ensembl:ENST00000373243) - p.Arg610Gln (Ensembl:ENST00000356090) - c.1829G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs201424861 | 610 | R>W | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.831) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000001.11:g.35565301C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565301C>T Locations: - p.Arg610Trp (Ensembl:ENST00000373243) - c.1828C>T (Ensembl:ENST00000373243) - p.Arg610Trp (Ensembl:ENST00000356090) - c.1828C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648835362 | 611 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000001.11:g.35565305C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565305C>T Locations: - p.Ala611Val (Ensembl:ENST00000373243) - c.1832C>T (Ensembl:ENST00000373243) - p.Ala611Val (Ensembl:ENST00000356090) - c.1832C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61934781 rs148888595 | 613 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.194) - SIFT: tolerated (0.06) Somatic: Yes Population frequencies: - MAF: 0.00001992 (gnomAD) Accession: NC_000001.11:g.35565311C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565311C>T Locations: - p.P613L (NCI-TCGA:ENST00000373243) - p.P613L (NCI-TCGA:ENST00000356090) - p.Pro613Leu (Ensembl:ENST00000373243) - c.1838C>T (Ensembl:ENST00000373243) - p.Pro613Leu (Ensembl:ENST00000356090) - c.1838C>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV61934741 | 613 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35565310C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35565310C>T Locations: - p.Pro613Ser (cosmic curated:ENST00000356090) - c.1837C>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648835865 | 614 | G>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.34) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000001.11:g.35565314G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565314G>C Locations: - p.Gly614Ala (Ensembl:ENST00000373243) - c.1841G>C (Ensembl:ENST00000373243) - p.Gly614Ala (Ensembl:ENST00000356090) - c.1841G>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1321361648 | 614 | G>S | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000001.11:g.35565313G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565313G>A Locations: - p.Gly614Ser (Ensembl:ENST00000373243) - c.1840G>A (Ensembl:ENST00000373243) - p.Gly614Ser (Ensembl:ENST00000356090) - c.1840G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1322052384 | 615 | S>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000001.11:g.35565316T>G Codon: TCA/GCA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565316T>G Locations: - p.Ser615Ala (Ensembl:ENST00000373243) - c.1843T>G (Ensembl:ENST00000373243) - p.Ser615Ala (Ensembl:ENST00000356090) - c.1843T>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1392411224 | 615 | S>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000001.11:g.35565317C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565317C>T Locations: - p.Ser615Leu (Ensembl:ENST00000373243) - c.1844C>T (Ensembl:ENST00000373243) - p.Ser615Leu (Ensembl:ENST00000356090) - c.1844C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs752409540 | 617 | Q>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (1) Somatic: No Accession: NC_000001.11:g.35565322C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565322C>A Locations: - p.Gln617Lys (Ensembl:ENST00000373243) - c.1849C>A (Ensembl:ENST00000373243) - p.Gln617Lys (Ensembl:ENST00000356090) - c.1849C>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648836588 | 622 | L>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.896) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000001.11:g.35565338T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565338T>G Locations: - p.Leu622Arg (Ensembl:ENST00000373243) - c.1865T>G (Ensembl:ENST00000373243) - p.Leu622Arg (Ensembl:ENST00000356090) - c.1865T>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648836763 | 623 | S>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000001.11:g.35565341C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565341C>G Locations: - p.Ser623Cys (Ensembl:ENST00000373243) - c.1868C>G (Ensembl:ENST00000373243) - p.Ser623Cys (Ensembl:ENST00000356090) - c.1868C>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 624 | P>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.907) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35565344C>A Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565344C>A Locations: - c.1871C>A (NCI-TCGA:ENST00000356090) - p.P624H (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1648837021 | 624 | P>L | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.266) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000001.11:g.35565344C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565344C>T Locations: - p.Pro624Leu (Ensembl:ENST00000373243) - c.1871C>T (Ensembl:ENST00000373243) - p.Pro624Leu (Ensembl:ENST00000356090) - c.1871C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1478226229 | 624 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.13) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000001.11:g.35565343C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565343C>T Locations: - p.Pro624Ser (Ensembl:ENST00000373243) - c.1870C>T (Ensembl:ENST00000373243) - p.Pro624Ser (Ensembl:ENST00000356090) - c.1870C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs746108612 | 625 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000001.11:g.35565347A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565347A>G Locations: - p.Glu625Gly (Ensembl:ENST00000373243) - c.1874A>G (Ensembl:ENST00000373243) - p.Glu625Gly (Ensembl:ENST00000356090) - c.1874A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61937334 | 626 | Y>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000001.11:g.35565349T>C Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565349T>C Locations: - p.Y626H (NCI-TCGA:ENST00000356090) - p.Tyr626His (cosmic curated:ENST00000356090) - c.1876T>C (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648837420 | 628 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000001.11:g.35565355G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565355G>A Locations: - p.Gly628Ser (Ensembl:ENST00000373243) - c.1882G>A (Ensembl:ENST00000373243) - p.Gly628Ser (Ensembl:ENST00000356090) - c.1882G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648837507 | 629 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000001.11:g.35565358A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565358A>G Locations: - p.Ile629Val (Ensembl:ENST00000373243) - c.1885A>G (Ensembl:ENST00000373243) - p.Ile629Val (Ensembl:ENST00000356090) - c.1885A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100622219 | 630 | W>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35565363G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35565363G>T Locations: - p.Trp630Cys (cosmic curated:ENST00000356090) - c.1890G>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61934998 | 630 | W>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35565362G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35565362G>T Locations: - p.Trp630Leu (cosmic curated:ENST00000356090) - c.1889G>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61934692 | 631 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35565364G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35565364G>A Locations: - p.Ala631Thr (cosmic curated:ENST00000356090) - c.1891G>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648837853 | 633 | L>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000001.11:g.35565370C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565370C>A Locations: - p.Leu633Met (Ensembl:ENST00000373243) - c.1897C>A (Ensembl:ENST00000373243) - p.Leu633Met (Ensembl:ENST00000356090) - c.1897C>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1287359355 | 634 | Q>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000001.11:g.35565374A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565374A>T Locations: - p.Gln634Leu (Ensembl:ENST00000373243) - c.1901A>T (Ensembl:ENST00000373243) - p.Gln634Leu (Ensembl:ENST00000356090) - c.1901A>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1571088016 | 645 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.35565406A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565406A>C Locations: - p.Thr645Pro (Ensembl:ENST00000373243) - c.1933A>C (Ensembl:ENST00000373243) - p.Thr645Pro (Ensembl:ENST00000356090) - c.1933A>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648838749 | 646 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.89) Somatic: No Accession: NC_000001.11:g.35565409G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565409G>A Locations: - p.Gly646Ser (Ensembl:ENST00000373243) - c.1936G>A (Ensembl:ENST00000373243) - p.Gly646Ser (Ensembl:ENST00000356090) - c.1936G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61937562 | 647 | C>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35565413G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35565413G>A Locations: - p.Cys647Tyr (cosmic curated:ENST00000356090) - c.1940G>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1452933073 | 648 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.543) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000001.11:g.35565415G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565415G>C Locations: - p.Val648Leu (Ensembl:ENST00000373243) - c.1942G>C (Ensembl:ENST00000373243) - p.Val648Leu (Ensembl:ENST00000356090) - c.1942G>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 649 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.145) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000001.11:g.35565418C>T Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565418C>T Locations: - c.1945C>T (NCI-TCGA:ENST00000356090) - p.P649S (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs762580458 | 652 | P>H | Pathogenic (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.898) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35565428C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565428C>A Locations: - p.Pro652His (Ensembl:ENST00000373243) - c.1955C>A (Ensembl:ENST00000373243) - p.Pro652His (Ensembl:ENST00000356090) - c.1955C>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
VAR_085879 RCV001391341 RCV001526831 rs762580458 | 652 | P>L | NEDIES; in the neuroblastoma cell line SH-SY5Y, in which NCDN has been knocked out, does not rescue impaired neurite formation following retinoic acid treatment, contrary to wild-type; in these cells, there is markedly decreased phosphorylation of ERK1/ERK2, compared to wild-type, suggesting impaired GRM5 activation (UniProt) Cerebellar ataxia (ClinVar) Neurodevelopmental disorder with infantile epileptic spasms (ClinVar) | Pathogenic (Ensembl, ClinVar) | UniProt ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000001.11:g.35565428C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565428C>T Locations: - p.Pro652Leu (Ensembl:ENST00000373243) - c.1955C>T (Ensembl:ENST00000373243) - p.Pro652Leu (Ensembl:ENST00000356090) - c.1955C>T (Ensembl:ENST00000356090) - p.Pro652Leu (UniProt:Q9UBB6) Disease association: - Cerebellar ataxia - Intellectual disability - Neurodevelopmental disorder with infantile epileptic spasms - Neurodevelopmental disorder with infantile epileptic spasms (NEDIES) Source type: mixed Cross-references: | |||||||
COSV61934916 rs752708609 | 657 | A>T | 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: benign (0.116) - SIFT: tolerated (0.59) Somatic: Yes Population frequencies: - MAF: 0.00003722 (gnomAD) Accession: NC_000001.11:g.35565442G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565442G>A Locations: - p.A657T (NCI-TCGA:ENST00000373243) - p.A657T (NCI-TCGA:ENST00000356090) - p.Ala657Thr (Ensembl:ENST00000373243) - c.1969G>A (Ensembl:ENST00000373243) - p.Ala657Thr (Ensembl:ENST00000356090) - c.1969G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs1203753278 | 660 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.478) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000004188 (gnomAD) Accession: NC_000001.11:g.35565451C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565451C>T Locations: - p.R660C (NCI-TCGA:ENST00000373243) - p.R660C (NCI-TCGA:ENST00000356090) - p.Arg660Cys (Ensembl:ENST00000373243) - c.1978C>T (Ensembl:ENST00000373243) - p.Arg660Cys (Ensembl:ENST00000356090) - c.1978C>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs1285645168 | 660 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.315) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000001.11:g.35565452G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565452G>A Locations: - p.Arg660His (Ensembl:ENST00000373243) - c.1979G>A (Ensembl:ENST00000373243) - p.Arg660His (Ensembl:ENST00000356090) - c.1979G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61936270 rs760317998 | 662 | R>H | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.222) - SIFT: tolerated (0.15) Somatic: Yes Accession: NC_000001.11:g.35565458G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565458G>A Locations: - p.Arg662His (Ensembl:ENST00000373243) - c.1985G>A (Ensembl:ENST00000373243) - p.Arg662His (Ensembl:ENST00000356090) - c.1985G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100621949 rs753756603 | 664 | P>L | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000001.11:g.35565464C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565464C>T Locations: - p.Pro664Leu (Ensembl:ENST00000373243) - c.1991C>T (Ensembl:ENST00000373243) - p.Pro664Leu (Ensembl:ENST00000356090) - c.1991C>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV61937210 rs1480122351 | 664 | P>S | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.229) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000001.11:g.35565463C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565463C>T Locations: - p.Pro664Ser (Ensembl:ENST00000373243) - c.1990C>T (Ensembl:ENST00000373243) - p.Pro664Ser (Ensembl:ENST00000356090) - c.1990C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs920575320 | 666 | E>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000001.11:g.35565471G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565471G>C Locations: - p.Glu666Asp (Ensembl:ENST00000373243) - c.1998G>C (Ensembl:ENST00000373243) - p.Glu666Asp (Ensembl:ENST00000356090) - c.1998G>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1571088132 | 668 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.595) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000001.11:g.35565476T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565476T>C Locations: - p.Leu668Pro (Ensembl:ENST00000373243) - c.2003T>C (Ensembl:ENST00000373243) - p.Leu668Pro (Ensembl:ENST00000356090) - c.2003T>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648841514 | 670 | L>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35565482T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565482T>G Locations: - p.Leu670Arg (Ensembl:ENST00000373243) - c.2009T>G (Ensembl:ENST00000373243) - p.Leu670Arg (Ensembl:ENST00000356090) - c.2009T>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1557427455 | 672 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.338) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000001.11:g.35565487G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565487G>C Locations: - p.Gly672Arg (Ensembl:ENST00000373243) - c.2014G>C (Ensembl:ENST00000373243) - p.Gly672Arg (Ensembl:ENST00000356090) - c.2014G>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs2148540614 | 674 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.356) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000001.11:g.35565494T>G Codon: GTC/GGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565494T>G Locations: - p.Val674Gly (Ensembl:ENST00000373243) - c.2021T>G (Ensembl:ENST00000373243) - p.Val674Gly (Ensembl:ENST00000356090) - c.2021T>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1557427456 | 675 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.745) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000001.11:g.35565496A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565496A>T Locations: - p.Ser675Cys (Ensembl:ENST00000373243) - c.2023A>T (Ensembl:ENST00000373243) - p.Ser675Cys (Ensembl:ENST00000356090) - c.2023A>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648842071 | 675 | S>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000001.11:g.35565497G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565497G>C Locations: - p.Ser675Thr (Ensembl:ENST00000373243) - c.2024G>C (Ensembl:ENST00000373243) - p.Ser675Thr (Ensembl:ENST00000356090) - c.2024G>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100621926 | 676 | P>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.1) Somatic: Yes Accession: NC_000001.11:g.35565499C>G Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565499C>G Locations: - p.P676A (NCI-TCGA:ENST00000356090) - p.Pro676Ala (cosmic curated:ENST00000356090) - c.2026C>G (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648842283 | 677 | N>S | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000001.11:g.35565503A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565503A>G Locations: - p.Asn677Ser (Ensembl:ENST00000373243) - c.2030A>G (Ensembl:ENST00000373243) - p.Asn677Ser (Ensembl:ENST00000356090) - c.2030A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV105258557 | 678 | S>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35565506C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35565506C>A Locations: - p.Ser678Tyr (cosmic curated:ENST00000356090) - c.2033C>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1300847448 | 679 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.694) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000001.11:g.35565508G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565508G>A Locations: - p.Val679Ile (Ensembl:ENST00000373243) - c.2035G>A (Ensembl:ENST00000373243) - p.Val679Ile (Ensembl:ENST00000356090) - c.2035G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1386817472 | 681 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000001.11:g.35565514C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565514C>T Locations: - p.Pro681Ser (Ensembl:ENST00000373243) - c.2041C>T (Ensembl:ENST00000373243) - p.Pro681Ser (Ensembl:ENST00000356090) - c.2041C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1386817472 | 681 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000001.11:g.35565514C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565514C>A Locations: - p.Pro681Thr (Ensembl:ENST00000373243) - c.2041C>A (Ensembl:ENST00000373243) - p.Pro681Thr (Ensembl:ENST00000356090) - c.2041C>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1048354845 | 682 | E>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.597) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35565518A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565518A>C Locations: - p.Glu682Ala (Ensembl:ENST00000373243) - c.2045A>C (Ensembl:ENST00000373243) - p.Glu682Ala (Ensembl:ENST00000356090) - c.2045A>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1333317577 | 682 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.597) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.35565517G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565517G>A Locations: - p.Glu682Lys (Ensembl:ENST00000373243) - c.2044G>A (Ensembl:ENST00000373243) - p.Glu682Lys (Ensembl:ENST00000356090) - c.2044G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1308990474 | 683 | M>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000001.11:g.35565520A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565520A>T Locations: - p.Met683Leu (Ensembl:ENST00000373243) - c.2047A>T (Ensembl:ENST00000373243) - p.Met683Leu (Ensembl:ENST00000356090) - c.2047A>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1354811416 | 683 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000001.11:g.35565521T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565521T>C Locations: - p.Met683Thr (Ensembl:ENST00000373243) - c.2048T>C (Ensembl:ENST00000373243) - p.Met683Thr (Ensembl:ENST00000356090) - c.2048T>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1308990474 | 683 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000001.11:g.35565520A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565520A>G Locations: - p.Met683Val (Ensembl:ENST00000373243) - c.2047A>G (Ensembl:ENST00000373243) - p.Met683Val (Ensembl:ENST00000356090) - c.2047A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs755117260 | 684 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.595) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35565523G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565523G>A Locations: - p.Val684Met (Ensembl:ENST00000373243) - c.2050G>A (Ensembl:ENST00000373243) - p.Val684Met (Ensembl:ENST00000356090) - c.2050G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1210502929 | 686 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000001.11:g.35565529G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565529G>T Locations: - p.Ala686Ser (Ensembl:ENST00000373243) - c.2056G>T (Ensembl:ENST00000373243) - p.Ala686Ser (Ensembl:ENST00000356090) - c.2056G>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1210502929 | 686 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.137) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.35565529G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565529G>A Locations: - p.Ala686Thr (Ensembl:ENST00000373243) - c.2056G>A (Ensembl:ENST00000373243) - p.Ala686Thr (Ensembl:ENST00000356090) - c.2056G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1269482534 | 686 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.235) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000001.11:g.35565530C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565530C>T Locations: - p.Ala686Val (Ensembl:ENST00000373243) - c.2057C>T (Ensembl:ENST00000373243) - p.Ala686Val (Ensembl:ENST00000356090) - c.2057C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 688 | Q>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.482) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000001.11:g.35565535C>G Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565535C>G Locations: - c.2062C>G (NCI-TCGA:ENST00000356090) - p.Q688E (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1648844279 | 691 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.319) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000001.11:g.35565544C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565544C>G Locations: - p.Leu691Val (Ensembl:ENST00000373243) - c.2071C>G (Ensembl:ENST00000373243) - p.Leu691Val (Ensembl:ENST00000356090) - c.2071C>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs937172725 | 695 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.823) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000001.11:g.35565557C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565557C>T Locations: - p.Ala695Val (Ensembl:ENST00000373243) - c.2084C>T (Ensembl:ENST00000373243) - p.Ala695Val (Ensembl:ENST00000356090) - c.2084C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1056929819 | 696 | R>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000001.11:g.35565560G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565560G>A Locations: - p.Arg696Gln (Ensembl:ENST00000373243) - c.2087G>A (Ensembl:ENST00000373243) - p.Arg696Gln (Ensembl:ENST00000356090) - c.2087G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
TCGA novel | 696 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.853) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35565559C>T Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565559C>T Locations: - c.2086C>T (NCI-TCGA:ENST00000356090) - p.R696W (NCI-TCGA:ENST00000356090) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs919922117 | 697 | A>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.215) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000001.11:g.35565563C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565563C>G Locations: - p.Ala697Gly (Ensembl:ENST00000373243) - c.2090C>G (Ensembl:ENST00000373243) - p.Ala697Gly (Ensembl:ENST00000356090) - c.2090C>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100621869 | 697 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35565562G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35565562G>A Locations: - p.Ala697Thr (cosmic curated:ENST00000356090) - c.2089G>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1384220448 | 699 | R>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000001.11:g.35565569G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565569G>C Locations: - p.Arg699Pro (Ensembl:ENST00000373243) - c.2096G>C (Ensembl:ENST00000373243) - p.Arg699Pro (Ensembl:ENST00000356090) - c.2096G>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1384220448 | 699 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.61) Somatic: No Accession: NC_000001.11:g.35565569G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565569G>A Locations: - p.R699Q (NCI-TCGA:ENST00000373243) - p.R699Q (NCI-TCGA:ENST00000356090) - p.Arg699Gln (Ensembl:ENST00000373243) - c.2096G>A (Ensembl:ENST00000373243) - p.Arg699Gln (Ensembl:ENST00000356090) - c.2096G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
COSV108187754 | 699 | R>W | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35565568C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35565568C>T Locations: - p.Arg699Trp (cosmic curated:ENST00000356090) - c.2095C>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1390195110 | 702 | R>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000001.11:g.35565578G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565578G>A Locations: - p.Arg702Gln (Ensembl:ENST00000373243) - c.2105G>A (Ensembl:ENST00000373243) - p.Arg702Gln (Ensembl:ENST00000356090) - c.2105G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1648845948 | 704 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000001.11:g.35565584C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565584C>T Locations: - p.Ala704Val (Ensembl:ENST00000373243) - c.2111C>T (Ensembl:ENST00000373243) - p.Ala704Val (Ensembl:ENST00000356090) - c.2111C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1418871638 | 705 | M>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000001.11:g.35565586A>C Codon: ATG/CTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565586A>C Locations: - p.Met705Leu (Ensembl:ENST00000373243) - c.2113A>C (Ensembl:ENST00000373243) - p.Met705Leu (Ensembl:ENST00000356090) - c.2113A>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1418871638 | 705 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000001.11:g.35565586A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565586A>G Locations: - p.Met705Val (Ensembl:ENST00000373243) - c.2113A>G (Ensembl:ENST00000373243) - p.Met705Val (Ensembl:ENST00000356090) - c.2113A>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV106105816 rs1242730068 | 709 | A>V | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.08) - SIFT: tolerated (0.27) Somatic: Yes Accession: NC_000001.11:g.35565599C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565599C>T Locations: - p.Ala709Val (Ensembl:ENST00000373243) - c.2126C>T (Ensembl:ENST00000373243) - p.Ala709Val (Ensembl:ENST00000356090) - c.2126C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV100621988 | 710 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000001.11:g.35565601G>A Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565601G>A Locations: - p.G710S (NCI-TCGA:ENST00000356090) - p.Gly710Ser (cosmic curated:ENST00000356090) - c.2128G>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs931294403 | 711 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: tolerated (0.84) Somatic: No Accession: NC_000001.11:g.35565604G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565604G>A Locations: - p.Glu711Lys (Ensembl:ENST00000373243) - c.2131G>A (Ensembl:ENST00000373243) - p.Glu711Lys (Ensembl:ENST00000356090) - c.2131G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs770543784 | 712 | E>D | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000001.11:g.35565609G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565609G>C Locations: - p.Glu712Asp (Ensembl:ENST00000373243) - c.2136G>C (Ensembl:ENST00000373243) - p.Glu712Asp (Ensembl:ENST00000356090) - c.2136G>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61937578 RCV002262228 rs774010404 | 713 | T>M | Likely benign (Ensembl, ClinVar) | cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.12) - SIFT: tolerated (0.26) Somatic: Yes Population frequencies: - MAF: 0.00011 (ClinVar) Accession: NC_000001.11:g.35565611C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565611C>T Locations: - p.Thr713Met (Ensembl:ENST00000373243) - c.2138C>T (Ensembl:ENST00000373243) - p.Thr713Met (Ensembl:ENST00000356090) - c.2138C>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs200496864 | 714 | A>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35565613G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565613G>C Locations: - p.Ala714Pro (Ensembl:ENST00000373243) - c.2140G>C (Ensembl:ENST00000373243) - p.Ala714Pro (Ensembl:ENST00000356090) - c.2140G>C (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1238684998 | 715 | S>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000001.11:g.35565618C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565618C>G Locations: - p.Ser715Arg (Ensembl:ENST00000373243) - c.2145C>G (Ensembl:ENST00000373243) - p.Ser715Arg (Ensembl:ENST00000356090) - c.2145C>G (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs866410933 | 718 | R>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.362) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000001.11:g.35565625C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565625C>T Locations: - p.Arg718Cys (Ensembl:ENST00000373243) - c.2152C>T (Ensembl:ENST00000373243) - p.Arg718Cys (Ensembl:ENST00000356090) - c.2152C>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs368983567 | 718 | R>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.296) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35565626G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565626G>A Locations: - p.Arg718His (Ensembl:ENST00000373243) - c.2153G>A (Ensembl:ENST00000373243) - p.Arg718His (Ensembl:ENST00000356090) - c.2153G>A (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs368983567 | 718 | R>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35565626G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565626G>T Locations: - p.Arg718Leu (Ensembl:ENST00000373243) - c.2153G>T (Ensembl:ENST00000373243) - p.Arg718Leu (Ensembl:ENST00000356090) - c.2153G>T (Ensembl:ENST00000356090) Source type: large scale study | |||||||
rs866410933 | 718 | R>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.35565625C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565625C>A Locations: - p.Arg718Ser (Ensembl:ENST00000373243) - c.2152C>A (Ensembl:ENST00000373243) - p.Arg718Ser (Ensembl:ENST00000356090) - c.2152C>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs2148540700 | 719 | M>L | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.671) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.35565628A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565628A>T Locations: - p.Met719Leu (Ensembl:ENST00000373243) - c.2155A>T (Ensembl:ENST00000373243) - p.Met719Leu (Ensembl:ENST00000356090) - c.2155A>T (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs760660286 | 720 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.35565631G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565631G>A Locations: - p.Ala720Thr (Ensembl:ENST00000373243) - c.2158G>A (Ensembl:ENST00000373243) - p.Ala720Thr (Ensembl:ENST00000356090) - c.2158G>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs866509876 | 725 | C>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000001.11:g.35565648C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565648C>A Locations: - p.Cys725Ter (Ensembl:ENST00000373243) - c.2175C>A (Ensembl:ENST00000373243) - p.Cys725Ter (Ensembl:ENST00000356090) - c.2175C>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV61936161 | 725 | C>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35565647G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35565647G>A Locations: - p.Cys725Tyr (cosmic curated:ENST00000356090) - c.2174G>A (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
COSV108187755 | 729 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.35565658C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.35565658C>T Locations: - p.Pro729Ser (cosmic curated:ENST00000356090) - c.2185C>T (cosmic curated:ENST00000356090) Source type: large scale study Cross-references: | |||||||
rs1401653292 | 729 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.65) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.35565658C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 1p34.3 Genomic location: NC_000001.11:g.35565658C>A Locations: - p.Pro729Thr (Ensembl:ENST00000373243) - c.2185C>A (Ensembl:ENST00000373243) - p.Pro729Thr (Ensembl:ENST00000356090) - c.2185C>A (Ensembl:ENST00000356090) Source type: large scale study Cross-references: |