E9PQ83 · E9PQ83_HUMAN
- ProteinChloride nucleotide-sensitive channel 1A
- GeneCLNS1A
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs761284042 | 2 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.393) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000011.10:g.77637710C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637710C>T Locations: - p.Ser2Asn (Ensembl:ENST00000527133) - c.5G>A (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs1386495287 | 2 | S>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.514) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.77637711T>G Codon: AGC/CGC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637711T>G Locations: - p.Ser2Arg (Ensembl:ENST00000527133) - c.4A>C (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs1460552964 | 3 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.302) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000011.10:g.77637706G>C, NC_000011.10:g.77637706G>T Codon: TTC/TTG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637706G>C, NC_000011.10:g.77637706G>T Locations: - p.Phe3Leu (Ensembl:ENST00000527133) - c.9C>G (Ensembl:ENST00000527133) - c.9C>A (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs1300362379 | 3 | F>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.514) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000011.10:g.77637707A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637707A>G Locations: - p.Phe3Ser (Ensembl:ENST00000527133) - c.8T>C (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs1959148383 | 3 | F>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.514) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000011.10:g.77637708A>C Codon: TTC/GTC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637708A>C Locations: - p.Phe3Val (Ensembl:ENST00000527133) - c.7T>G (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs773922206 | 4 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.773) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.77637705G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637705G>A Locations: - p.Leu4Phe (Ensembl:ENST00000527133) - c.10C>T (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs1427383240 | 5 | K>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.617) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.77637702T>G Codon: AAA/CAA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637702T>G Locations: - p.Lys5Gln (Ensembl:ENST00000527133) - c.13A>C (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs768513315 | 7 | F>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.883) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.77637695A>C Codon: TTC/TGC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637695A>C Locations: - p.Phe7Cys (Ensembl:ENST00000527133) - c.20T>G (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs768513315 | 7 | F>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.514) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.77637695A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637695A>G Locations: - p.Phe7Ser (Ensembl:ENST00000527133) - c.20T>C (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs1959147930 | 8 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.908) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.77637692G>C Codon: CCG/CGG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637692G>C Locations: - p.Pro8Arg (Ensembl:ENST00000527133) - c.23C>G (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs2135783759 | 8 | P>S | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.81) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000011.10:g.77637693G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637693G>A Locations: - p.Pro8Ser (Ensembl:ENST00000527133) - c.22C>T (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs200664728 | 11 | G>A | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.902) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000011.10:g.77637683C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637683C>G Locations: - p.Gly11Ala (Ensembl:ENST00000527133) - c.32G>C (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs200664728 | 11 | G>E | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000011.10:g.77637683C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637683C>T Locations: - p.Gly11Glu (Ensembl:ENST00000527133) - c.32G>A (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs570067710 | 11 | G>R | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000011.10:g.77637684C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637684C>T Locations: - p.Gly11Arg (Ensembl:ENST00000527133) - c.31G>A (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs1457245233 | 12 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.856) - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000011.10:g.77637680G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637680G>A Locations: - p.Pro12Leu (Ensembl:ENST00000527133) - c.35C>T (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs1368771182 | 13 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.578) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000011.10:g.77637677G>C Codon: GCG/GGG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637677G>C Locations: - p.Ala13Gly (Ensembl:ENST00000527133) - c.38C>G (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs1273816599 | 15 | G>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.902) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.77637671C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637671C>G Locations: - p.Gly15Ala (Ensembl:ENST00000527133) - c.44G>C (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs1273816599 | 15 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.77637671C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637671C>T Locations: - p.Gly15Glu (Ensembl:ENST00000527133) - c.44G>A (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs1320975950 | 15 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.77637672C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637672C>T Locations: - p.Gly15Arg (Ensembl:ENST00000527133) - c.43G>A (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs1320975950 | 15 | G>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.77637672C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637672C>A Locations: - p.Gly15Trp (Ensembl:ENST00000527133) - c.43G>T (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs1233010128 | 17 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.578) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.77637666G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637666G>C Locations: - p.Leu17Val (Ensembl:ENST00000527133) - c.49C>G (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs560134044 | 18 | R>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.3) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000011.10:g.77637662C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637662C>A Locations: - p.Arg18Leu (Ensembl:ENST00000527133) - c.53G>T (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs1217131291 | 18 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.833) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000011.10:g.77637663G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637663G>A Locations: - p.Arg18Trp (Ensembl:ENST00000527133) - c.52C>T (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs1331252676 | 22 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.737) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000011.10:g.77637651C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637651C>T Locations: - p.Asp22Asn (Ensembl:ENST00000527133) - c.64G>A (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs921339760 | 23 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.711) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.77637647G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637647G>A Locations: - p.Thr23Ile (Ensembl:ENST00000527133) - c.68C>T (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs931441556 | 23 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.711) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.77637648T>G Codon: ACT/CCT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637648T>G Locations: - p.Thr23Pro (Ensembl:ENST00000527133) - c.67A>C (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs1400212231 | 25 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.691) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.77637642C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637642C>T Locations: - p.Ala25Thr (Ensembl:ENST00000527133) - c.73G>A (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs2135783666 | 26 | V>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.788) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.77637639C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637639C>T Locations: - p.Val26Met (Ensembl:ENST00000527133) - c.76G>A (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs1470965752 | 28 | N>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.85) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.77637632T>A Codon: AAC/ATC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637632T>A Locations: - p.Asn28Ile (Ensembl:ENST00000527133) - c.83A>T (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs568595117 | 29 | G>A | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.902) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.77637629C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637629C>G Locations: - p.Gly29Ala (Ensembl:ENST00000527133) - c.86G>C (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs568595117 | 29 | G>E | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000011.10:g.77637629C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637629C>T Locations: - p.Gly29Glu (Ensembl:ENST00000527133) - c.86G>A (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs568595117 | 29 | G>V | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.77637629C>A Codon: GGG/GTG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637629C>A Locations: - p.Gly29Val (Ensembl:ENST00000527133) - c.86G>T (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs1404216939 | 29 | G>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.77637630C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637630C>A Locations: - p.Gly29Trp (Ensembl:ENST00000527133) - c.85G>T (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs781329205 | 30 | K>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.497) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000011.10:g.77637626T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637626T>C Locations: - p.Lys30Arg (Ensembl:ENST00000527133) - c.89A>G (Ensembl:ENST00000527133) Source type: large scale study | |||||||
rs2135783621 | 31 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000011.10:g.77637624C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637624C>T Locations: - p.Gly31Ser (Ensembl:ENST00000527133) - c.91G>A (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs1439079871 | 32 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.887) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.77637620A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637620A>G Locations: - p.Leu32Pro (Ensembl:ENST00000527133) - c.95T>C (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs1959146475 | 33 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.77637618C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637618C>G Locations: - p.Gly33Arg (Ensembl:ENST00000527133) - c.97G>C (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs746997793 | 34 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.398) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000011.10:g.77637615T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637615T>C Locations: - p.Thr34Ala (Ensembl:ENST00000527133) - c.100A>G (Ensembl:ENST00000527133) Source type: large scale study | |||||||
rs746997793 | 34 | T>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.711) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000011.10:g.77637615T>G Codon: ACT/CCT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637615T>G Locations: - p.Thr34Pro (Ensembl:ENST00000527133) - c.100A>C (Ensembl:ENST00000527133) Source type: large scale study | |||||||
rs1959146313 | 35 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000011.10:g.77637612C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637612C>T Locations: - p.Gly35Ser (Ensembl:ENST00000527133) - c.103G>A (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs915353619 | 36 | T>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.617) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.77637608G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637608G>T Locations: - p.Thr36Asn (Ensembl:ENST00000527133) - c.107C>A (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs915353619 | 36 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.497) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.77637608G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637608G>C Locations: - p.Thr36Ser (Ensembl:ENST00000527133) - c.107C>G (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs760929157 | 38 | Y>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.77637602dup Codon: TAC/TAAC Consequence type: stop gained Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637602dup Locations: - p.Tyr38Ter (Ensembl:ENST00000527133) - c.113dup (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs777944388 | 38 | Y>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.692) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.77637603A>T Codon: TAC/AAC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637603A>T Locations: - p.Tyr38Asn (Ensembl:ENST00000527133) - c.112T>A (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs979779110 | 39 | I>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.412) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.77637599A>C Codon: ATC/AGC Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637599A>C Locations: - p.Ile39Ser (Ensembl:ENST00000527133) - c.116T>G (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs1281710643 | 40 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.578) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.77637597C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77637597C>A Locations: - p.Ala40Ser (Ensembl:ENST00000527133) - c.118G>T (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
TCGA novel rs1284777048 | 43 | R>I | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.516) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.77625816C>A Codon: GAA/TAA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77625816C>A Locations: - p.R43I (NCI-TCGA:ENST00000527133) - p.Arg43Ile (Ensembl:ENST00000527133) - c.128G>T (Ensembl:ENST00000527133) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1284777048 | 43 | R>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.146) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.77625816C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77625816C>T Locations: - p.Arg43Lys (Ensembl:ENST00000527133) - c.128G>A (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs1225193760 | 45 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000011.10:g.77625811T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77625811T>C Locations: - p.Lys45Glu (Ensembl:ENST00000527133) - c.133A>G (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs1959012413 | 46 | R>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000011.10:g.77625808T>C Codon: AGA/GGA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77625808T>C Locations: - p.Arg46Gly (Ensembl:ENST00000527133) - c.136A>G (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs1959012376 | 46 | R>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.59) Somatic: No Accession: NC_000011.10:g.77625807C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77625807C>T Locations: - p.Arg46Lys (Ensembl:ENST00000527133) - c.137G>A (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs2135768030 | 47 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.53) Somatic: No Accession: NC_000011.10:g.77625804G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77625804G>A Locations: - p.Thr47Ile (Ensembl:ENST00000527133) - c.140C>T (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs199712423 | 48 | C>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000011.10:g.77625802A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77625802A>G Locations: - p.Cys48Arg (Ensembl:ENST00000527133) - c.142T>C (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs1359283582 | 49 | C>* | TOPMed gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000011.10:g.77625797G>T Codon: GCT/GAT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77625797G>T Locations: - p.Cys49Ter (Ensembl:ENST00000527133) - c.147C>A (Ensembl:ENST00000527133) Source type: large scale study Cross-references: | |||||||
rs1959012204 | 50 | *>S | TOPMed | ||||
Consequence: missense Somatic: No Accession: NC_000011.10:g.77625795C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: 11q14.1 Genomic location: NC_000011.10:g.77625795C>G Locations: - p.Ter50SerextTer1 (Ensembl:ENST00000527133) - c.149G>C (Ensembl:ENST00000527133) Source type: large scale study Cross-references: |