A6PVD3 · A6PVD3_HUMAN
- ProteinTranscription factor SOX-10
- GeneSOX10
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids213 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1186044024 | 2 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983780G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983780G>A Locations: - p.Ala2Val (Ensembl:ENST00000427770) - c.5C>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
RCV001290164 rs1932482365 | 3 | E>* | Waardenburg syndrome type 2E (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37983778C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983778C>A Locations: - p.Glu3Ter (Ensembl:ENST00000427770) - c.7G>T (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 2E (WS2E) Source type: large scale study | |||||||
rs1932482258 | 4 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983775C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983775C>T Locations: - p.Glu4Lys (Ensembl:ENST00000427770) - c.10G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1932482163 | 4 | E>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000022.11:g.37983774T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983774T>A Locations: - p.Glu4Val (Ensembl:ENST00000427770) - c.11A>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
RCV001582453 rs2145777835 | 5 | Q>* | Waardenburg syndrome type 2E (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37983772_37983773delinsAT Codon: GAGCAG/GAATAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983772_37983773delinsAT Locations: - p.Gln5Ter (Ensembl:ENST00000427770) - c.12_13delinsAT (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 2E (WS2E) Source type: large scale study | |||||||
rs1256220050 | 5 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.559) - SIFT: tolerated - low confidence (0.37) Somatic: No Accession: NC_000022.11:g.37983770C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983770C>G Locations: - p.Gln5His (Ensembl:ENST00000427770) - c.15G>C (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1932481978 | 5 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.14) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000022.11:g.37983771T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983771T>C Locations: - p.Gln5Arg (Ensembl:ENST00000427770) - c.14A>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1601887226 | 6 | D>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000022.11:g.37983768T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983768T>G Locations: - p.Asp6Ala (Ensembl:ENST00000427770) - c.17A>C (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs149435516 | 6 | D>E | Benign (Ensembl) | 1000Genomes ESP ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000022.11:g.37983767G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983767G>T Locations: - p.Asp6Glu (Ensembl:ENST00000427770) - c.18C>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1175938851 | 7 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.2) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983765A>G Codon: CTA/CCA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983765A>G Locations: - p.Leu7Pro (Ensembl:ENST00000427770) - c.20T>C (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1601887213 | 10 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.115) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983756A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983756A>C Locations: - p.Val10Gly (Ensembl:ENST00000427770) - c.29T>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1932480957 | 11 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.392) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000022.11:g.37983752C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983752C>A Locations: - p.Glu11Asp (Ensembl:ENST00000427770) - c.33G>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1378332307 | 11 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.392) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983754C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983754C>T Locations: - p.Glu11Lys (Ensembl:ENST00000427770) - c.31G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs867999617 | 13 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.687) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983747C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983747C>T Locations: - p.Ser13Asn (Ensembl:ENST00000427770) - c.38G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1228706802 | 13 | S>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.674) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983746G>C Codon: AGC/AGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983746G>C Locations: - p.Ser13Arg (Ensembl:ENST00000427770) - c.39C>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1282410687 | 15 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.606) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000022.11:g.37983742C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983742C>T Locations: - p.Val15Met (Ensembl:ENST00000427770) - c.43G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1450100008 | 16 | G>S | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.119) - SIFT: tolerated - low confidence (0.6) Somatic: No Accession: NC_000022.11:g.37983739C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983739C>T Locations: - p.Gly16Ser (Ensembl:ENST00000427770) - c.46G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
CA16621120 RCV000479482 rs1064795391 | 17 | S>* | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37983735G>T Codon: TCG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983735G>T Locations: - p.Ser17Ter (Ensembl:ENST00000427770) - c.50C>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1064795391 | 17 | S>L | Likely pathogenic (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.874) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983735G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983735G>A Locations: - p.Ser17Leu (Ensembl:ENST00000427770) - c.50C>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1334869588 | 19 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000022.11:g.37983729T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983729T>C Locations: - p.Glu19Gly (Ensembl:ENST00000427770) - c.56A>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1932479472 | 20 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.53) Somatic: No Accession: NC_000022.11:g.37983727G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983727G>C Locations: - p.Pro20Ala (Ensembl:ENST00000427770) - c.58C>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1161833735 | 21 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.392) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000022.11:g.37983724G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983724G>A Locations: - p.Arg21Cys (Ensembl:ENST00000427770) - c.61C>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1161833735 | 21 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000022.11:g.37983724G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983724G>C Locations: - p.Arg21Gly (Ensembl:ENST00000427770) - c.61C>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1458159398 | 21 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.49) Somatic: No Accession: NC_000022.11:g.37983723C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983723C>T Locations: - p.Arg21His (Ensembl:ENST00000427770) - c.62G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1161833735 | 21 | R>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000022.11:g.37983724G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983724G>T Locations: - p.Arg21Ser (Ensembl:ENST00000427770) - c.61C>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1932478699 | 22 | C>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.387) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983720C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983720C>T Locations: - p.Cys22Tyr (Ensembl:ENST00000427770) - c.65G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1368575089 | 24 | S>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983715A>C Codon: TCC/GCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983715A>C Locations: - p.Ser24Ala (Ensembl:ENST00000427770) - c.70T>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1368575089 | 24 | S>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000022.11:g.37983715A>T Codon: TCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983715A>T Locations: - p.Ser24Thr (Ensembl:ENST00000427770) - c.70T>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
RCV000825458 RCV002290474 rs1339336077 | 24 | S>Y | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.268) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000022.11:g.37983714G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983714G>T Locations: - p.Ser24Tyr (Ensembl:ENST00000427770) - c.71C>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
COSV61005307 rs1932478106 | 25 | P>S | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.06) Somatic: Yes Accession: NC_000022.11:g.37983712G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983712G>A Locations: - p.Pro25Ser (Ensembl:ENST00000427770) - c.73C>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1932478012 | 26 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000022.11:g.37983708C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983708C>T Locations: - p.Gly26Glu (Ensembl:ENST00000427770) - c.77G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
RCV001970537 rs1932477803 | 28 | A>V | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000022.11:g.37983702G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983702G>A Locations: - p.Ala28Val (Ensembl:ENST00000427770) - c.83C>T (Ensembl:ENST00000427770) Source type: large scale study | |||||||
RCV001767130 rs1489956199 | 29 | P>T | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000022.11:g.37983700G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983700G>T Locations: - p.Pro29Thr (Ensembl:ENST00000427770) - c.85C>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
RCV001092010 RCV001170068 RCV001249445 rs1932477493 | 30 | S>* | Waardenburg syndrome type 4C (ClinVar) Hypogonadism with anosmia (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37983696G>T Codon: TCG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983696G>T Locations: - p.Ser30Ter (Ensembl:ENST00000427770) - c.89C>A (Ensembl:ENST00000427770) Disease association: - Hypogonadism with anosmia (KS) - Waardenburg syndrome type 4C (WS4C) Source type: large scale study Cross-references: | |||||||
rs1229987208 | 33 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000022.11:g.37983687G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983687G>A Locations: - p.Pro33Leu (Ensembl:ENST00000427770) - c.98C>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
COSV61005993 rs1478879510 | 33 | P>S | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.21) Somatic: Yes Accession: NC_000022.11:g.37983688G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983688G>A Locations: - p.Pro33Ser (Ensembl:ENST00000427770) - c.97C>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1478879510 | 33 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000022.11:g.37983688G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983688G>T Locations: - p.Pro33Thr (Ensembl:ENST00000427770) - c.97C>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
RCV002214256 rs2145777610 | 34 | D>G | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.434) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000022.11:g.37983684T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983684T>C Locations: - p.Asp34Gly (Ensembl:ENST00000427770) - c.101A>G (Ensembl:ENST00000427770) Source type: large scale study | |||||||
COSV100329862 rs1932476499 | 35 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated - low confidence (0.09) Somatic: Yes Accession: NC_000022.11:g.37983681C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983681C>T Locations: - p.G35D (NCI-TCGA:ENST00000427770) - p.Gly35Asp (Ensembl:ENST00000427770) - c.104G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs770004606 | 36 | G>S | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.34) Somatic: No Accession: NC_000022.11:g.37983679C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983679C>T Locations: - p.Gly36Ser (Ensembl:ENST00000427770) - c.106G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs759762110 | 37 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000022.11:g.37983676C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983676C>T Locations: - p.Gly37Ser (Ensembl:ENST00000427770) - c.109G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1322873238 | 38 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.22) Somatic: No Accession: NC_000022.11:g.37983672C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983672C>T Locations: - p.Gly38Asp (Ensembl:ENST00000427770) - c.113G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1436063707 | 39 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000022.11:g.37983669C>A Codon: GGA/GTA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983669C>A Locations: - p.Gly39Val (Ensembl:ENST00000427770) - c.116G>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs199750760 | 41 | G>D | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000022.11:g.37983663C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983663C>T Locations: - p.Gly41Asp (Ensembl:ENST00000427770) - c.122G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
CA10228725 RCV000277103 RCV000325156 RCV000613610 RCV000877144 rs199750760 | 41 | G>V | Waardenburg syndrome (ClinVar) PCWH syndrome (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.0022 (ClinVar) Accession: NC_000022.11:g.37983663C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983663C>A Locations: - p.Gly41Val (Ensembl:ENST00000427770) - c.122G>T (Ensembl:ENST00000427770) Disease association: - PCWH syndrome - Waardenburg syndrome Source type: large scale study | |||||||
CP025182 CX103666 RCV000660272 RCV001290165 RCV004533451 rs1555939523 | 43 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) Waardenburg syndrome type 4C (ClinVar) SOX10-related disorder (ClinVar) Waardenburg syndrome type 2E (ClinVar) | Pathogenic (Ensembl, ClinVar, NCI-TCGA) | NCI-TCGA ClinVar TOPMed dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37983658G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983658G>A Locations: - p.R43* (NCI-TCGA:ENST00000427770) - p.Arg43Ter (Ensembl:ENST00000427770) - c.127C>T (Ensembl:ENST00000427770) Disease association: - SOX10-related disorder - Waardenburg syndrome type 2E (WS2E) - Waardenburg syndrome type 4C (WS4C) Source type: large scale study Cross-references: - NCI-TCGA: CP025182 - NCI-TCGA: CX103666 | |||||||
COSV61005550 rs1932474865 | 43 | R>Q | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.65) Somatic: Yes Accession: NC_000022.11:g.37983657C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983657C>T Locations: - p.Arg43Gln (Ensembl:ENST00000427770) - c.128G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs747377284 | 44 | A>D | Benign (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000022.11:g.37983654G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983654G>T Locations: - p.Ala44Asp (Ensembl:ENST00000427770) - c.131C>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
CA10228723 RCV000519667 RCV000767097 RCV001149119 RCV001149120 RCV004541634 rs747377284 | 44 | A>G | Waardenburg syndrome (ClinVar) SOX10-related disorder (ClinVar) PCWH syndrome (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.32) Somatic: No Population frequencies: - MAF: 0.00012 (ClinVar) Accession: NC_000022.11:g.37983654G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983654G>C Locations: - p.Ala44Gly (Ensembl:ENST00000427770) - c.131C>G (Ensembl:ENST00000427770) Disease association: - PCWH syndrome - SOX10-related disorder - Waardenburg syndrome Source type: large scale study | |||||||
rs747377284 | 44 | A>V | Benign (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_000022.11:g.37983654G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983654G>A Locations: - p.Ala44Val (Ensembl:ENST00000427770) - c.131C>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1447194601 | 46 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000022.11:g.37983648G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983648G>A Locations: - p.P46L (NCI-TCGA:ENST00000427770) - p.Pro46Leu (Ensembl:ENST00000427770) - c.137C>T (Ensembl:ENST00000427770) Source type: large scale study | |||||||
rs1168500667 | 46 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000022.11:g.37983649G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983649G>A Locations: - p.Pro46Ser (Ensembl:ENST00000427770) - c.136C>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1391454829 | 47 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000022.11:g.37983645C>A Codon: GGG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983645C>A Locations: - p.Gly47Val (Ensembl:ENST00000427770) - c.140G>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1244786630 | 48 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000022.11:g.37983642G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983642G>A Locations: - p.Pro48Leu (Ensembl:ENST00000427770) - c.143C>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1477467526 | 48 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000022.11:g.37983643G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983643G>A Locations: - p.Pro48Ser (Ensembl:ENST00000427770) - c.142C>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1223421300 | 49 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000022.11:g.37983640C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983640C>T Locations: - p.Gly49Ser (Ensembl:ENST00000427770) - c.145G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs2145777470 | 51 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.076) - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000022.11:g.37983633A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983633A>G Locations: - p.Leu51Pro (Ensembl:ENST00000427770) - c.152T>C (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1932473127 | 52 | G>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000022.11:g.37983630C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983630C>G Locations: - p.Gly52Ala (Ensembl:ENST00000427770) - c.155G>C (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs778038020 | 53 | K>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000022.11:g.37983626C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983626C>G Locations: - p.Lys53Asn (Ensembl:ENST00000427770) - c.159G>C (Ensembl:ENST00000427770) Source type: large scale study | |||||||
rs2145777456 | 53 | K>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.37) Somatic: No Accession: NC_000022.11:g.37983628T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983628T>G Locations: - p.Lys53Gln (Ensembl:ENST00000427770) - c.157A>C (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1202924491 | 54 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: NC_000022.11:g.37983625C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983625C>T Locations: - p.Val54Ile (Ensembl:ENST00000427770) - c.160G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1340193662 | 55 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated - low confidence (0.48) Somatic: No Accession: NC_000022.11:g.37983622T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983622T>C Locations: - p.Lys55Glu (Ensembl:ENST00000427770) - c.163A>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
COSV106478342 RCV001891516 rs377075961 | 57 | E>K | Likely benign (Ensembl, ClinVar) | cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated - low confidence (0.62) Somatic: Yes Population frequencies: - MAF: 0.00006 (ClinVar) Accession: NC_000022.11:g.37983616C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983616C>T Locations: - p.Glu57Lys (Ensembl:ENST00000427770) - c.169G>A (Ensembl:ENST00000427770) Source type: large scale study | |||||||
rs1569171289 | 58 | Q>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000022.11:g.37983613G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983613G>C Locations: - p.Gln58Glu (Ensembl:ENST00000427770) - c.172C>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
COSV61005801 rs1367116894 | 59 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37983610G>A Codon: CAG/TAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983610G>A Locations: - p.Q59* (NCI-TCGA:ENST00000427770) - p.Gln59Ter (Ensembl:ENST00000427770) - c.175C>T (Ensembl:ENST00000427770) Source type: large scale study | |||||||
rs1367116894 | 59 | Q>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.89) Somatic: No Accession: NC_000022.11:g.37983610G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983610G>T Locations: - p.Gln59Lys (Ensembl:ENST00000427770) - c.175C>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1273461073 | 59 | Q>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000022.11:g.37983609T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983609T>A Locations: - p.Gln59Leu (Ensembl:ENST00000427770) - c.176A>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1273461073 | 59 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated - low confidence (0.51) Somatic: No Accession: NC_000022.11:g.37983609T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983609T>C Locations: - p.Gln59Arg (Ensembl:ENST00000427770) - c.176A>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
COSV61005413 rs1350814508 | 60 | D>G | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Accession: NC_000022.11:g.37983606T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983606T>C Locations: - p.Asp60Gly (Ensembl:ENST00000427770) - c.179A>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
RCV001761359 rs1439127307 | 60 | D>N | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.392) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000022.11:g.37983607C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983607C>T Locations: - p.Asp60Asn (Ensembl:ENST00000427770) - c.178G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1350814508 | 60 | D>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.179) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000022.11:g.37983606T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983606T>A Locations: - p.Asp60Val (Ensembl:ENST00000427770) - c.179A>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs748667317 | 61 | G>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000022.11:g.37983603C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983603C>T Locations: - p.Gly61Asp (Ensembl:ENST00000427770) - c.182G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
RCV001328563 RCV003135983 rs866240813 | 61 | G>S | PCWH syndrome (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000022.11:g.37983604C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983604C>T Locations: - p.Gly61Ser (Ensembl:ENST00000427770) - c.181G>A (Ensembl:ENST00000427770) Disease association: - PCWH syndrome Source type: large scale study Cross-references: | |||||||
RCV002006662 rs372400283 | 64 | D>A | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983594T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983594T>G Locations: - p.Asp64Ala (Ensembl:ENST00000427770) - c.191A>C (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1315579578 | 64 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated - low confidence (0.83) Somatic: No Accession: NC_000022.11:g.37983593G>T, NC_000022.11:g.37983593G>C Codon: GAC/GAA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983593G>T, NC_000022.11:g.37983593G>C Locations: - p.Asp64Glu (Ensembl:ENST00000427770) - c.192C>A (Ensembl:ENST00000427770) - c.192C>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs372400283 | 64 | D>G | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983594T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983594T>C Locations: - p.Asp64Gly (Ensembl:ENST00000427770) - c.191A>G (Ensembl:ENST00000427770) Source type: large scale study | |||||||
rs1371901048 | 64 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.144) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983595C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983595C>T Locations: - p.Asp64Asn (Ensembl:ENST00000427770) - c.190G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
CA10228717 RCV000221276 RCV001509097 rs372400283 | 64 | D>V | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000022.11:g.37983594T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983594T>A Locations: - p.Asp64Val (Ensembl:ENST00000427770) - c.191A>T (Ensembl:ENST00000427770) Source type: large scale study | |||||||
rs1413568253 | 65 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.846) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983592C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983592C>G Locations: - p.Asp65His (Ensembl:ENST00000427770) - c.193G>C (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
COSV61005395 rs1413568253 | 65 | D>N | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.782) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000022.11:g.37983592C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983592C>T Locations: - p.Asp65Asn (Ensembl:ENST00000427770) - c.193G>A (Ensembl:ENST00000427770) Source type: large scale study | |||||||
rs1422539913 | 66 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: NC_000022.11:g.37983587G>T, NC_000022.11:g.37983587G>C Codon: GAC/GAA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983587G>T, NC_000022.11:g.37983587G>C Locations: - p.Asp66Glu (Ensembl:ENST00000427770) - c.198C>A (Ensembl:ENST00000427770) - c.198C>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1932470883 | 66 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.255) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983589C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983589C>T Locations: - p.Asp66Asn (Ensembl:ENST00000427770) - c.196G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs780878837 | 67 | K>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.879) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983584C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983584C>A Locations: - p.Lys67Asn (Ensembl:ENST00000427770) - c.201G>T (Ensembl:ENST00000427770) Source type: large scale study | |||||||
rs1932470631 | 67 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated - low confidence (0.68) Somatic: No Accession: NC_000022.11:g.37983585T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983585T>C Locations: - p.Lys67Arg (Ensembl:ENST00000427770) - c.200A>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
RCV001149115 RCV001149116 rs1932470433 | 68 | F>L | Waardenburg syndrome (ClinVar) PCWH syndrome (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.842) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983583A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983583A>G Locations: - p.Phe68Leu (Ensembl:ENST00000427770) - c.202T>C (Ensembl:ENST00000427770) Disease association: - PCWH syndrome - Waardenburg syndrome Source type: large scale study Cross-references: | |||||||
rs751332955 | 68 | F>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.842) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983581G>T Codon: TTC/TTA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983581G>T Locations: - p.Phe68Leu (Ensembl:ENST00000427770) - c.204C>A (Ensembl:ENST00000427770) Source type: large scale study | |||||||
rs763813431 | 69 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983580G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983580G>A Locations: - p.Pro69Ser (Ensembl:ENST00000427770) - c.205C>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
COSV61004944 rs759674899 | 70 | V>A | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated - low confidence (0.46) Somatic: Yes Accession: NC_000022.11:g.37983576A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983576A>G Locations: - p.Val70Ala (Ensembl:ENST00000427770) - c.209T>C (Ensembl:ENST00000427770) Source type: large scale study | |||||||
rs765329363 | 70 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000022.11:g.37983577C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983577C>G Locations: - p.Val70Leu (Ensembl:ENST00000427770) - c.208G>C (Ensembl:ENST00000427770) Source type: large scale study | |||||||
rs765329363 | 70 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.906) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983577C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983577C>T Locations: - p.V70M (NCI-TCGA:ENST00000427770) - p.Val70Met (Ensembl:ENST00000427770) - c.208G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
CA10228708 RCV000214833 RCV000660274 RCV001420589 RCV001544623 rs200683397 | 71 | C>G | Waardenburg syndrome type 4C (ClinVar) Waardenburg syndrome type 2E (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.269) - SIFT: tolerated - low confidence (0.48) Somatic: No Population frequencies: - MAF: 0.0004 (ClinVar) Accession: NC_000022.11:g.37983574A>C Codon: TGC/GGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983574A>C Locations: - p.Cys71Gly (Ensembl:ENST00000427770) - c.211T>G (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 2E (WS2E) - Waardenburg syndrome type 4C (WS4C) Source type: large scale study | |||||||
CA411501391 RCV000627359 RCV001290166 rs1555939491 | 78 | Q>* | Waardenburg syndrome type 2E (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37983553G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983553G>A Locations: - p.Gln78Ter (Ensembl:ENST00000427770) - c.232C>T (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 2E (WS2E) Source type: large scale study Cross-references: | |||||||
rs1221132587 | 82 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983540C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983540C>T Locations: - p.Gly82Asp (Ensembl:ENST00000427770) - c.245G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs73415876 CA118750 RCV000007818 | 83 | Y>* | Waardenburg syndrome type 4C (ClinVar) | Pathogenic (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP | ||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.04093 (ClinVar) Accession: NC_000022.11:g.37983536G>T, NC_000022.11:g.37983536G>C Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983536G>T, NC_000022.11:g.37983536G>C Locations: - p.Tyr83Ter (Ensembl:ENST00000427770) - c.249C>A (Ensembl:ENST00000427770) - c.249C>G (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 4C (WS4C) Source type: large scale study | |||||||
COSV105905920 rs1408558281 | 84 | D>Y | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000022.11:g.37983535C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983535C>A Locations: - p.Asp84Tyr (Ensembl:ENST00000427770) - c.250G>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
RCV001785008 rs2145777262 | 85 | W>* | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37983531C>T Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983531C>T Locations: - p.Trp85Ter (Ensembl:ENST00000427770) - c.254G>A (Ensembl:ENST00000427770) Source type: large scale study | |||||||
rs1465167325 | 89 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983519G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983519G>A Locations: - p.Pro89Leu (Ensembl:ENST00000427770) - c.266C>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1356917370 | 90 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.829) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983515C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983515C>T Locations: - p.Met90Ile (Ensembl:ENST00000427770) - c.270G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1177855369 | 91 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983514G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983514G>T Locations: - p.Pro91Thr (Ensembl:ENST00000427770) - c.271C>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
RCV000871484 RCV001146313 RCV001146314 RCV001375097 RCV004540232 rs142113652 | 92 | V>L | Waardenburg syndrome (ClinVar) SOX10-related disorder (ClinVar) PCWH syndrome (ClinVar) | Benign (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00006 (ClinVar) Accession: NC_000022.11:g.37983511C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983511C>G Locations: - p.Val92Leu (Ensembl:ENST00000427770) - c.274G>C (Ensembl:ENST00000427770) Disease association: - PCWH syndrome - SOX10-related disorder - Waardenburg syndrome Source type: large scale study | |||||||
COSV61005855 rs142113652 | 92 | V>M | Benign (Ensembl) | cosmic curated ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.951) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000022.11:g.37983511C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983511C>T Locations: - p.Val92Met (Ensembl:ENST00000427770) - c.274G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1015818123 | 93 | R>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983508G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983508G>A Locations: - p.Arg93Cys (Ensembl:ENST00000427770) - c.277C>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs2145777182 | 93 | R>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.891) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983507C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983507C>T Locations: - p.Arg93His (Ensembl:ENST00000427770) - c.278G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1451564399 | 94 | V>A | Benign (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.682) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000022.11:g.37983504A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983504A>G Locations: - p.Val94Ala (Ensembl:ENST00000427770) - c.281T>C (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
COSV100329658 rs1932467025 | 94 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.778) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Accession: NC_000022.11:g.37983505C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983505C>T Locations: - p.V94I (NCI-TCGA:ENST00000427770) - p.Val94Ile (Ensembl:ENST00000427770) - c.280G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs2145777154 | 96 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.924) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983498C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983498C>T Locations: - p.Gly96Asp (Ensembl:ENST00000427770) - c.287G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1932466608 | 96 | G>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.454) - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000022.11:g.37983499C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983499C>T Locations: - p.Gly96Ser (Ensembl:ENST00000427770) - c.286G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1932466363 | 97 | A>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000022.11:g.37983496C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983496C>A Locations: - p.Ala97Ser (Ensembl:ENST00000427770) - c.289G>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs952615401 | 98 | S>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000022.11:g.37983492C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983492C>T Locations: - p.Ser98Asn (Ensembl:ENST00000427770) - c.293G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs374038201 | 100 | S>N | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000022.11:g.37983486C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983486C>T Locations: - p.Ser100Asn (Ensembl:ENST00000427770) - c.299G>A (Ensembl:ENST00000427770) Source type: large scale study | |||||||
RCV000660277 rs1555939459 | 101 | K>* | Waardenburg syndrome type 4C (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37983484T>A Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983484T>A Locations: - p.Lys101Ter (Ensembl:ENST00000427770) - c.301A>T (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 4C (WS4C) Source type: large scale study | |||||||
COSV100329861 rs1932465548 | 102 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.85) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000022.11:g.37983480G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983480G>A Locations: - p.P102L (NCI-TCGA:ENST00000427770) - p.Pro102Leu (Ensembl:ENST00000427770) - c.305C>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs758261188 | 102 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000022.11:g.37983481G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983481G>A Locations: - p.Pro102Ser (Ensembl:ENST00000427770) - c.304C>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs758261188 | 102 | P>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983481G>T Codon: CCG/ACG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983481G>T Locations: - p.Pro102Thr (Ensembl:ENST00000427770) - c.304C>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs752595410 | 104 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000008104 (gnomAD) Accession: NC_000022.11:g.37983475C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983475C>T Locations: - p.V104I (NCI-TCGA:ENST00000427770) - p.Val104Ile (Ensembl:ENST00000427770) - c.310G>A (Ensembl:ENST00000427770) Source type: large scale study | |||||||
CA10577153 RCV000217827 rs876658005 | 105 | K>Q | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983472T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983472T>G Locations: - p.Lys105Gln (Ensembl:ENST00000427770) - c.313A>C (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
CA16043702 RCV000415328 rs1057518656 | 106 | R>G | Waardenburg syndrome type 2E (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983469G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983469G>C Locations: - p.Arg106Gly (Ensembl:ENST00000427770) - c.316C>G (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 2E (WS2E) Source type: large scale study Cross-references: | |||||||
rs868367053 | 107 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983466G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983466G>A Locations: - p.Pro107Ser (Ensembl:ENST00000427770) - c.319C>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
RCV001290167 RCV002245947 RCV004528449 rs1932464492 | 108 | M>T | SOX10-related disorder (ClinVar) Waardenburg syndrome type 2E (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983462A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983462A>G Locations: - p.Met108Thr (Ensembl:ENST00000427770) - c.323T>C (Ensembl:ENST00000427770) Disease association: - SOX10-related disorder - Waardenburg syndrome type 2E (WS2E) Source type: large scale study Cross-references: | |||||||
rs1932464585 | 108 | M>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983463T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983463T>C Locations: - p.Met108Val (Ensembl:ENST00000427770) - c.322A>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
RCV001290168 rs1932464388 | 109 | N>S | Waardenburg syndrome type 2E (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983459T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983459T>C Locations: - p.Asn109Ser (Ensembl:ENST00000427770) - c.326A>G (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 2E (WS2E) Source type: large scale study | |||||||
RCV000997922 rs1601886756 | 110 | A>V | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983456G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983456G>A Locations: - p.Ala110Val (Ensembl:ENST00000427770) - c.329C>T (Ensembl:ENST00000427770) Source type: large scale study | |||||||
RCV001822911 rs2145777042 RCV001775030 | 112 | M>I | Waardenburg syndrome type 4C (ClinVar) Waardenburg syndrome type 1 (ClinVar) Waardenburg syndrome type 1 (ws1) (Ensembl) | Pathogenic (Ensembl) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983449C>A, NC_000022.11:g.37983449C>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983449C>A, NC_000022.11:g.37983449C>T Locations: - p.Met112Ile (Ensembl:ENST00000427770) - c.336G>T (Ensembl:ENST00000427770) - c.336G>A (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 4C (WS4C) - Waardenburg syndrome type 1 (WS1) Source type: large scale study Cross-references: | |||||||
RCV001290169 rs1932463844 | 112 | M>R | Waardenburg syndrome type 2E (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983450A>C Codon: ATG/AGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983450A>C Locations: - p.Met112Arg (Ensembl:ENST00000427770) - c.335T>G (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 2E (WS2E) Source type: large scale study | |||||||
RCV001775028 rs1932463844 | 112 | M>T | Waardenburg syndrome type 1 (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983450A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983450A>G Locations: - p.Met112Thr (Ensembl:ENST00000427770) - c.335T>C (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 1 (WS1) Source type: large scale study | |||||||
RCV000660278 RCV000765648 rs1555939439 | 112 | M>V | Waardenburg syndrome type 4C (ClinVar) PCWH syndrome (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983451T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983451T>C Locations: - p.Met112Val (Ensembl:ENST00000427770) - c.334A>G (Ensembl:ENST00000427770) Disease association: - PCWH syndrome - Waardenburg syndrome type 2E (WS2E) - Waardenburg syndrome type 4C (WS4C) Source type: large scale study Cross-references: | |||||||
RCV001290170 rs1932463755 | 114 | W>* | Waardenburg syndrome type 2E (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37983444C>T Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983444C>T Locations: - p.Trp114Ter (Ensembl:ENST00000427770) - c.341G>A (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 2E (WS2E) Source type: large scale study | |||||||
RCV001994990 rs2145777024 | 119 | R>L | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983429C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983429C>A Locations: - p.Arg119Leu (Ensembl:ENST00000427770) - c.356G>T (Ensembl:ENST00000427770) Source type: large scale study | |||||||
RCV000660279 rs1555939426 | 122 | L>V | Waardenburg syndrome type 4C (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983421G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983421G>C Locations: - p.Leu122Val (Ensembl:ENST00000427770) - c.364C>G (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 4C (WS4C) Source type: large scale study | |||||||
RCV001991717 rs2145777007 | 123 | A>P | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.85) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000022.11:g.37983418C>G Codon: GCG/CCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983418C>G Locations: - p.Ala123Pro (Ensembl:ENST00000427770) - c.367G>C (Ensembl:ENST00000427770) Source type: large scale study | |||||||
COSV61005761 RCV002226002 rs1387386886 | 123 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000022.11:g.37983417G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983417G>A Locations: - p.A123V (NCI-TCGA:ENST00000427770) - p.Ala123Val (Ensembl:ENST00000427770) - c.368C>T (Ensembl:ENST00000427770) Source type: large scale study | |||||||
COSV61005006 RCV000760743 rs1569171175 | 125 | Q>* | Pathogenic (Ensembl, ClinVar) | cosmic curated ClinVar Ensembl dbSNP | |||
Consequence: missense Somatic: Yes Accession: NC_000022.11:g.37983412G>A Codon: CAG/TAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983412G>A Locations: - p.Gln125Ter (Ensembl:ENST00000427770) - c.373C>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
RCV001822888 RCV002570664 rs2145776981 | 126 | Y>* | Waardenburg syndrome type 4C (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37983407G>T Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983407G>T Locations: - p.Tyr126Ter (Ensembl:ENST00000427770) - c.378C>A (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 4C (WS4C) Source type: large scale study Cross-references: | |||||||
rs1012200020 | 126 | Y>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.866) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000022.11:g.37983409A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983409A>G Locations: - p.Tyr126His (Ensembl:ENST00000427770) - c.376T>C (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
RCV001290171 rs1932462410 | 129 | L>P | Waardenburg syndrome type 2E (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983399A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983399A>G Locations: - p.Leu129Pro (Ensembl:ENST00000427770) - c.386T>C (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 2E (WS2E) Source type: large scale study | |||||||
RCV001799539 TCGA novel rs2145776948 | 132 | A>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) PCWH syndrome (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar NCI-TCGA Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983390G>C Codon: GCT/GGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983390G>C Locations: - p.A132G (NCI-TCGA:ENST00000427770) - p.Ala132Gly (Ensembl:ENST00000427770) - c.395C>G (Ensembl:ENST00000427770) Disease association: - PCWH syndrome Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
RCV001898337 TCGA novel rs2145776948 | 132 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Pathogenic (Ensembl) | ClinVar NCI-TCGA Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983390G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983390G>A Locations: - p.A132V (NCI-TCGA:ENST00000427770) - p.Ala132Val (Ensembl:ENST00000427770) - c.395C>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1164043046 | 134 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983385G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983385G>A Locations: - p.Leu134Phe (Ensembl:ENST00000427770) - c.400C>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
CA10577152 RCV000215786 rs876657660 | 134 | L>P | Rare genetic deafness (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983384A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983384A>G Locations: - p.Leu134Pro (Ensembl:ENST00000427770) - c.401T>C (Ensembl:ENST00000427770) Disease association: - Rare genetic deafness Source type: large scale study Cross-references: | |||||||
RCV001004070 rs1555939415 | 135 | S>G | Waardenburg syndrome type 2E (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.866) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983382T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983382T>C Locations: - p.Ser135Gly (Ensembl:ENST00000427770) - c.403A>G (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 2E (WS2E) Source type: large scale study | |||||||
RCV001007915 RCV001262264 rs74315515 | 135 | S>N | Waardenburg syndrome type 4C (ClinVar) PCWH syndrome (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983381C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983381C>T Locations: - p.Ser135Asn (Ensembl:ENST00000427770) - c.404G>A (Ensembl:ENST00000427770) Disease association: - PCWH syndrome - Waardenburg syndrome type 4C (WS4C) Source type: large scale study Cross-references: | |||||||
CA411500124 RCV000626402 rs1555939415 | 135 | S>R | Waardenburg syndrome type 2A (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983382T>G Codon: AGC/CGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983382T>G Locations: - p.Ser135Arg (Ensembl:ENST00000427770) - c.403A>C (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 2A (WS2A) Source type: large scale study Cross-references: | |||||||
VAR_021386 CA118757 RCV000007821 rs74315515 | 135 | S>T | WS2E; without neurologic involvement (UniProt) Waardenburg syndrome type 2E, without neurologic involvement (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000022.11:g.37983381C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983381C>G Locations: - p.Ser135Thr (UniProt:P56693) - p.Ser135Thr (Ensembl:ENST00000427770) - c.404G>C (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome 2E (WS2E) - Waardenburg syndrome type 2E, without neurologic involvement Source type: mixed Cross-references: | |||||||
RCV000721947 rs1569171143 | 139 | G>C | Waardenburg syndrome type 2E (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983370C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983370C>A Locations: - p.Gly139Cys (Ensembl:ENST00000427770) - c.415G>T (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 2E (WS2E) Source type: large scale study | |||||||
RCV001770777 rs2145776915 | 139 | G>D | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983369C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983369C>T Locations: - p.Gly139Asp (Ensembl:ENST00000427770) - c.416G>A (Ensembl:ENST00000427770) Source type: large scale study | |||||||
RCV001775031 rs2145776911 | 141 | L>P | Waardenburg syndrome type 1 (ClinVar) Waardenburg syndrome type 1 (ws1) (Ensembl) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.906) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983363A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983363A>G Locations: - p.Leu141Pro (Ensembl:ENST00000427770) - c.422T>C (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 1 (WS1) Source type: large scale study | |||||||
CA10588726 RCV000254896 rs886039664 | 142 | W>* | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37983360C>T Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983360C>T Locations: - p.Trp142Ter (Ensembl:ENST00000427770) - c.425G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
CA411499987 RCV000614769 rs1555939403 | 142 | W>* | Rare genetic deafness (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37983359C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983359C>T Locations: - p.Trp142Ter (Ensembl:ENST00000427770) - c.426G>A (Ensembl:ENST00000427770) Disease association: - Rare genetic deafness Source type: large scale study Cross-references: | |||||||
RCV000660281 rs1555939403 RCV000985243 | 142 | W>C | Waardenburg syndrome type 4C (ClinVar) Waardenburg syndrome type 2E (ClinVar) | Pathogenic (Ensembl) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983359C>G, NC_000022.11:g.37983359C>A Codon: TGG/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983359C>G, NC_000022.11:g.37983359C>A Locations: - p.Trp142Cys (Ensembl:ENST00000427770) - c.426G>C (Ensembl:ENST00000427770) - c.426G>T (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 4C (WS4C) - Waardenburg syndrome type 2E (WS2E) Source type: large scale study Cross-references: | |||||||
CA411500003 RCV000615378 RCV001290172 rs1555939408 | 142 | W>R | Waardenburg syndrome type 2E (ClinVar) Rare genetic deafness (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983361A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983361A>G Locations: - p.Trp142Arg (Ensembl:ENST00000427770) - c.424T>C (Ensembl:ENST00000427770) Disease association: - Rare genetic deafness - Waardenburg syndrome type 2E (WS2E) Source type: large scale study Cross-references: | |||||||
RCV001170070 rs886039664 | 142 | W>S | PCWH syndrome (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37983360C>G Codon: TGG/TCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37983360C>G Locations: - p.Trp142Ser (Ensembl:ENST00000427770) - c.425G>C (Ensembl:ENST00000427770) Disease association: - PCWH syndrome Source type: large scale study | |||||||
rs1932280655 | 144 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37978134G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978134G>C Locations: - p.Leu144Val (Ensembl:ENST00000427770) - c.430C>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1370065890 | 147 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.651) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37978124T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978124T>C Locations: - p.Glu147Gly (Ensembl:ENST00000427770) - c.440A>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
COSV62806880 rs1428993903 | 147 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.867) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000004846 (gnomAD) Accession: NC_000022.11:g.37978125C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978125C>T Locations: - p.E147K (NCI-TCGA:ENST00000427770) - p.Glu147Lys (Ensembl:ENST00000427770) - c.439G>A (Ensembl:ENST00000427770) Source type: large scale study | |||||||
rs1331853919 | 148 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated - low confidence (0.39) Somatic: No Accession: NC_000022.11:g.37978121C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978121C>T Locations: - p.Ser148Asn (Ensembl:ENST00000427770) - c.443G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1331853919 | 148 | S>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000022.11:g.37978121C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978121C>G Locations: - p.Ser148Thr (Ensembl:ENST00000427770) - c.443G>C (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
COSV62807125 rs756136781 | 149 | D>G | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.872) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000022.11:g.37978118T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978118T>C Locations: - p.Asp149Gly (Ensembl:ENST00000427770) - c.446A>G (Ensembl:ENST00000427770) Source type: large scale study | |||||||
RCV001290174 rs1932280017 | 150 | K>* | Waardenburg syndrome type 2E (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37978116T>A Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978116T>A Locations: - p.Lys150Ter (Ensembl:ENST00000427770) - c.448A>T (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 2E (WS2E) Source type: large scale study | |||||||
RCV001729954 rs1932280017 | 150 | K>E | Waardenburg syndrome type 4C (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37978116T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978116T>C Locations: - p.Lys150Glu (Ensembl:ENST00000427770) - c.448A>G (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 4C (WS4C) Source type: large scale study | |||||||
VAR_072984 rs1463736052 | 151 | R>C | found in a patient with Kallmann syndrome (UniProt) | Benign (UniProt) | UniProt dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000022.11:g.37978113G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978113G>A Locations: - p.Arg151Cys (UniProt:P56693) - p.Arg151Cys (Ensembl:ENST00000427770) - c.451C>T (Ensembl:ENST00000427770) Source type: mixed | |||||||
COSV100704065 rs1373797370 | 151 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Likely pathogenic (Ensembl) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000009094 (gnomAD) Accession: NC_000022.11:g.37978112C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978112C>T Locations: - p.R151H (NCI-TCGA:ENST00000427770) - p.Arg151His (Ensembl:ENST00000427770) - c.452G>A (Ensembl:ENST00000427770) Source type: large scale study | |||||||
RCV000660282 rs1373797370 | 151 | R>P | Waardenburg syndrome type 4C (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37978112C>G Codon: CGC/CCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978112C>G Locations: - p.Arg151Pro (Ensembl:ENST00000427770) - c.452G>C (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 4C (WS4C) Source type: large scale study | |||||||
rs1198424144 | 152 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37978109G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978109G>A Locations: - p.Pro152Leu (Ensembl:ENST00000427770) - c.455C>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
RCV001751921 rs2145768609 | 153 | F>I | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37978107A>T Codon: TTC/ATC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978107A>T Locations: - p.Phe153Ile (Ensembl:ENST00000427770) - c.457T>A (Ensembl:ENST00000427770) Source type: large scale study | |||||||
rs1932279613 | 154 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000022.11:g.37978104T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978104T>C Locations: - p.Ile154Val (Ensembl:ENST00000427770) - c.460A>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
RCV001290175 rs1932279377 | 155 | E>* | Waardenburg syndrome type 2E (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37978101C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978101C>A Locations: - p.Glu155Ter (Ensembl:ENST00000427770) - c.463G>T (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 2E (WS2E) Source type: large scale study | |||||||
rs1932279276 | 155 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.59) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000022.11:g.37978099C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978099C>G Locations: - p.Glu155Asp (Ensembl:ENST00000427770) - c.465G>C (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
RCV002033253 rs1932279377 | 155 | E>K | Pathogenic (Ensembl) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.94) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37978101C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978101C>T Locations: - p.Glu155Lys (Ensembl:ENST00000427770) - c.463G>A (Ensembl:ENST00000427770) Source type: large scale study | |||||||
rs1269869887 | 157 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000022.11:g.37978095C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978095C>T Locations: - p.Ala157Thr (Ensembl:ENST00000427770) - c.469G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
VAR_066752 CA118779 RCV000007833 RCV002273922 rs121909117 | 157 | A>V | WS4C; loss of DNA binding and transactivation capacity (UniProt) Waardenburg syndrome type 4C (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000022.11:g.37978094G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978094G>A Locations: - p.Ala157Val (UniProt:P56693) - p.Ala157Val (Ensembl:ENST00000427770) - c.470C>T (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome 4C (WS4C) - Waardenburg syndrome type 4C (WS4C) Source type: mixed Cross-references: | |||||||
rs2145768559 | 159 | R>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37978088C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978088C>T Locations: - p.Arg159Gln (Ensembl:ENST00000427770) - c.476G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
COSV62807299 rs2145768564 | 159 | R>W | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000022.11:g.37978089G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978089G>A Locations: - p.Arg159Trp (Ensembl:ENST00000427770) - c.475C>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
RCV001170065 RCV003339524 rs1482985217 | 160 | L>P | Waardenburg syndrome type 4C (ClinVar) Waardenburg syndrome type 2E (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37978085A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978085A>G Locations: - p.Leu160Pro (Ensembl:ENST00000427770) - c.479T>C (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 2E (WS2E) - Waardenburg syndrome type 4C (WS4C) Source type: large scale study Cross-references: | |||||||
COSV107453477 RCV001909314 RCV003155439 RCV003328487 rs2145768544 | 161 | R>C | Deafness with anatomical inner ear anomalies (ClinVar) PCWH syndrome (ClinVar) | Pathogenic (Ensembl, ClinVar) | cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000022.11:g.37978083G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978083G>A Locations: - p.Arg161Cys (Ensembl:ENST00000427770) - c.481C>T (Ensembl:ENST00000427770) Disease association: - Deafness with anatomical inner ear anomalies - PCWH syndrome - Waardenburg syndrome type 2E (WS2E) - Waardenburg syndrome type 4C (WS4C) Source type: large scale study | |||||||
VAR_066753 COSV62806588 RCV001095698 RCV001555269 rs750566714 | 161 | R>H | WS2E; reduced DNA binding capacity (UniProt) Waardenburg syndrome type 2e (ws2e) (Ensembl) Waardenburg syndrome type 2E (ClinVar) | Pathogenic (UniProt) | UniProt cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000022.11:g.37978082C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978082C>T Locations: - p.Arg161His (UniProt:P56693) - p.Arg161His (Ensembl:ENST00000427770) - c.482G>A (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome 2E (WS2E) - Waardenburg syndrome type 2E (WS2E) Source type: mixed | |||||||
rs1206592767 | 162 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000022.11:g.37978078C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978078C>T Locations: - p.Met162Ile (Ensembl:ENST00000427770) - c.486G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
RCV000735663 rs1569169289 | 163 | Q>* | Waardenburg syndrome type 2E (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37978077G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978077G>A Locations: - p.Gln163Ter (Ensembl:ENST00000427770) - c.487C>T (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 2E (WS2E) Source type: large scale study | |||||||
rs1569169289 | 163 | Q>K | Pathogenic (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.748) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37978077G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978077G>T Locations: - p.Gln163Lys (Ensembl:ENST00000427770) - c.487C>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
RCV002005906 rs2145768519 | 164 | H>P | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37978073T>G Codon: CAC/CCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978073T>G Locations: - p.His164Pro (Ensembl:ENST00000427770) - c.491A>C (Ensembl:ENST00000427770) Source type: large scale study | |||||||
rs1339469483 | 165 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37978070T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978070T>C Locations: - p.Lys165Arg (Ensembl:ENST00000427770) - c.494A>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs2145768510 | 167 | D>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37978065C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978065C>G Locations: - p.Asp167His (Ensembl:ENST00000427770) - c.499G>C (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
COSV62806158 rs2145768498 | 169 | P>L | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000022.11:g.37978058G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978058G>A Locations: - p.Pro169Leu (Ensembl:ENST00000427770) - c.506C>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
RCV000760893 rs1569169273 | 172 | K>* | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37978050T>A Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978050T>A Locations: - p.Lys172Ter (Ensembl:ENST00000427770) - c.514A>T (Ensembl:ENST00000427770) Source type: large scale study | |||||||
RCV001822912 RCV002283550 rs2145768481 | 174 | Q>* | Waardenburg syndrome type 4C (ClinVar) Waardenburg syndrome type 2E (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37978044G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978044G>A Locations: - p.Gln174Ter (Ensembl:ENST00000427770) - c.520C>T (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 2E (WS2E) - Waardenburg syndrome type 4C (WS4C) Source type: large scale study Cross-references: | |||||||
VAR_066754 CA118782 RCV000007835 rs267607081 | 174 | Q>P | PCWH; without Hirschsprung disease; reduced DNA binding capacity (UniProt) Waardenburg syndrome type 2E, with neurologic involvement (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000022.11:g.37978043T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978043T>G Locations: - p.Gln174Pro (UniProt:P56693) - p.Gln174Pro (Ensembl:ENST00000427770) - c.521A>C (Ensembl:ENST00000427770) Disease association: - Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) - Waardenburg syndrome type 2E, with neurologic involvement Source type: mixed Cross-references: | |||||||
CA411497800 RCV000623200 RCV001290177 RCV002291283 rs1555938395 | 175 | P>S | Inborn genetic diseases (ClinVar) SOX10-related disorder (ClinVar) Waardenburg syndrome type 2E (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37978041G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978041G>A Locations: - p.Pro175Ser (Ensembl:ENST00000427770) - c.523C>T (Ensembl:ENST00000427770) Disease association: - Inborn genetic diseases - SOX10-related disorder - Waardenburg syndrome type 2E (WS2E) Source type: large scale study | |||||||
rs2145768440 | 177 | R>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37978035G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978035G>C Locations: - p.Arg177Gly (Ensembl:ENST00000427770) - c.529C>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
RCV001917890 rs1283642219 | 177 | R>Q | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.705) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37978034C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978034C>T Locations: - p.Arg177Gln (Ensembl:ENST00000427770) - c.530G>A (Ensembl:ENST00000427770) Source type: large scale study | |||||||
COSV62806470 COSV62806470,COSV62807596 COSV62807596 rs2145768440 | 177 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000022.11:g.37978035G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978035G>A Locations: - p.R177W (NCI-TCGA:ENST00000427770) - p.Arg177Trp (Ensembl:ENST00000427770) - c.529C>T (Ensembl:ENST00000427770) Source type: large scale study | |||||||
rs1932277071 | 178 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37978032G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978032G>C Locations: - p.Arg178Gly (Ensembl:ENST00000427770) - c.532C>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
COSV62806609 rs2145768407 | 178 | R>Q | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000022.11:g.37978031C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978031C>T Locations: - p.Arg178Gln (Ensembl:ENST00000427770) - c.533G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
COSV100704177 rs1932277071 | 178 | R>W | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000022.11:g.37978032G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978032G>A Locations: - p.Arg178Trp (Ensembl:ENST00000427770) - c.532C>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs146131921 | 180 | N>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.94) Somatic: No Accession: NC_000022.11:g.37978025T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978025T>C Locations: - p.Asn180Ser (Ensembl:ENST00000427770) - c.539A>G (Ensembl:ENST00000427770) Source type: large scale study | |||||||
COSV62806705 RCV001987973 rs772887957 | 181 | G>R | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: tolerated - low confidence (0.07) Somatic: Yes Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000022.11:g.37978023C>T, NC_000022.11:g.37978023C>G Codon: GGG/AGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978023C>T, NC_000022.11:g.37978023C>G Locations: - p.Gly181Arg (Ensembl:ENST00000427770) - c.541G>A (Ensembl:ENST00000427770) - c.541G>C (Ensembl:ENST00000427770) Source type: large scale study | |||||||
rs2145768385 | 182 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.294) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37978020T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978020T>C Locations: - p.Lys182Glu (Ensembl:ENST00000427770) - c.544A>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs2145768376 | 183 | A>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.33) Somatic: No Accession: NC_000022.11:g.37978016G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978016G>C Locations: - p.Ala183Gly (Ensembl:ENST00000427770) - c.548C>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
TCGA novel rs2145768376 | 183 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated - low confidence (0.22) Somatic: No Accession: NC_000022.11:g.37978016G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978016G>A Locations: - p.A183V (NCI-TCGA:ENST00000427770) - p.Ala183Val (Ensembl:ENST00000427770) - c.548C>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs747825443 | 184 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000022.11:g.37978014C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978014C>A Locations: - p.Ala184Ser (Ensembl:ENST00000427770) - c.550G>T (Ensembl:ENST00000427770) Source type: large scale study | |||||||
rs747825443 | 184 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000022.11:g.37978014C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978014C>T Locations: - p.Ala184Thr (Ensembl:ENST00000427770) - c.550G>A (Ensembl:ENST00000427770) Source type: large scale study | |||||||
rs1932276229 | 186 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.845) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37978008C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978008C>G Locations: - p.Gly186Arg (Ensembl:ENST00000427770) - c.556G>C (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
COSV62806560 rs1431927888 | 187 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Benign (Ensembl) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.344) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000022.11:g.37978005C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978005C>T Locations: - p.E187K (NCI-TCGA:ENST00000427770) - p.Glu187Lys (Ensembl:ENST00000427770) - c.559G>A (Ensembl:ENST00000427770) Source type: large scale study | |||||||
rs1601882327 | 188 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000022.11:g.37978002C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978002C>T Locations: - p.Ala188Thr (Ensembl:ENST00000427770) - c.562G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs754817070 | 188 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000022.11:g.37978001G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37978001G>A Locations: - p.Ala188Val (Ensembl:ENST00000427770) - c.563C>T (Ensembl:ENST00000427770) Source type: large scale study | |||||||
CA118747 RCV000007817 rs74315514 | 189 | E>* | Waardenburg syndrome type 4C (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37977999C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977999C>A Locations: - p.Glu189Ter (Ensembl:ENST00000427770) - c.565G>T (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 4C (WS4C) Source type: large scale study Cross-references: | |||||||
rs779836065 | 189 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.29) Somatic: No Accession: NC_000022.11:g.37977997C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977997C>G Locations: - p.Glu189Asp (Ensembl:ENST00000427770) - c.567G>C (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs2145768314 | 189 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000022.11:g.37977998T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977998T>C Locations: - p.Glu189Gly (Ensembl:ENST00000427770) - c.566A>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
RCV001375372 rs756120041 | 190 | C>* | Waardenburg syndrome type 4C (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | ||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37977994G>T Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977994G>T Locations: - p.Cys190Ter (Ensembl:ENST00000427770) - c.570C>A (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 4C (WS4C) Source type: large scale study Cross-references: | |||||||
COSV105263106 rs2145768307 | 190 | C>G | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.51) Somatic: Yes Accession: NC_000022.11:g.37977996A>C Codon: TGC/GGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977996A>C Locations: - p.Cys190Gly (Ensembl:ENST00000427770) - c.568T>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs2145768307 | 190 | C>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.85) Somatic: No Accession: NC_000022.11:g.37977996A>T Codon: TGC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977996A>T Locations: - p.Cys190Ser (Ensembl:ENST00000427770) - c.568T>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs756120041 | 190 | C>W | Pathogenic (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000022.11:g.37977994G>C Codon: TGC/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977994G>C Locations: - p.Cys190Trp (Ensembl:ENST00000427770) - c.570C>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs2145768283 | 192 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.44) Somatic: No Accession: NC_000022.11:g.37977989C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977989C>T Locations: - p.Gly192Asp (Ensembl:ENST00000427770) - c.575G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
CA10228651 RCV000598423 RCV004543355 rs200475773 | 192 | G>S | SOX10-related disorder (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.12) Somatic: No Population frequencies: - MAF: 0.0004 (ClinVar) Accession: NC_000022.11:g.37977990C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977990C>T Locations: - p.Gly192Ser (Ensembl:ENST00000427770) - c.574G>A (Ensembl:ENST00000427770) Disease association: - SOX10-related disorder Source type: large scale study | |||||||
COSV62806189 rs1198404379 | 193 | G>E | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.243) - SIFT: tolerated - low confidence (0.16) Somatic: Yes Accession: NC_000022.11:g.37977986C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977986C>T Locations: - p.Gly193Glu (Ensembl:ENST00000427770) - c.578G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1412445337 | 193 | G>W | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.645) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37977987C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977987C>A Locations: - p.Gly193Trp (Ensembl:ENST00000427770) - c.577G>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs2145768261 | 194 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000022.11:g.37977983T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977983T>C Locations: - p.Glu194Gly (Ensembl:ENST00000427770) - c.581A>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs2145768258 | 195 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000022.11:g.37977981C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977981C>T Locations: - p.Ala195Thr (Ensembl:ENST00000427770) - c.583G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs2145768254 | 195 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000022.11:g.37977980G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977980G>A Locations: - p.Ala195Val (Ensembl:ENST00000427770) - c.584C>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
RCV000660283 rs763210407 | 196 | E>* | Waardenburg syndrome type 4C (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37977978C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977978C>A Locations: - p.Glu196Ter (Ensembl:ENST00000427770) - c.586G>T (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 4C (WS4C) Source type: large scale study Cross-references: | |||||||
COSV62806597 rs763210407 | 196 | E>K | Likely pathogenic (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.568) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000022.11:g.37977978C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977978C>T Locations: - p.Glu196Lys (Ensembl:ENST00000427770) - c.586G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs763210407 | 196 | E>Q | Likely pathogenic (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.182) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000022.11:g.37977978C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977978C>G Locations: - p.Glu196Gln (Ensembl:ENST00000427770) - c.586G>C (Ensembl:ENST00000427770) Source type: large scale study | |||||||
rs1019151119 | 197 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37977975G>A Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977975G>A Locations: - p.Gln197Ter (Ensembl:ENST00000427770) - c.589C>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1019151119 | 197 | Q>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated - low confidence (0.48) Somatic: No Accession: NC_000022.11:g.37977975G>T Codon: CAA/AAA Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977975G>T Locations: - p.Gln197Lys (Ensembl:ENST00000427770) - c.589C>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs2145768215 | 198 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.203) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000022.11:g.37977971C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977971C>T Locations: - p.Gly198Asp (Ensembl:ENST00000427770) - c.593G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1932273952 | 200 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000022.11:g.37977966T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977966T>C Locations: - p.Thr200Ala (Ensembl:ENST00000427770) - c.598A>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1932273952 | 200 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000022.11:g.37977966T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977966T>G Locations: - p.Thr200Pro (Ensembl:ENST00000427770) - c.598A>C (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1932273846 | 200 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.5) Somatic: No Accession: NC_000022.11:g.37977965G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977965G>C Locations: - p.Thr200Ser (Ensembl:ENST00000427770) - c.599C>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1932273952 | 200 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.5) Somatic: No Accession: NC_000022.11:g.37977966T>A Codon: ACC/TCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977966T>A Locations: - p.Thr200Ser (Ensembl:ENST00000427770) - c.598A>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs61756177 | 201 | A>P | Benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000022.11:g.37977963C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977963C>G Locations: - p.Ala201Pro (Ensembl:ENST00000427770) - c.601G>C (Ensembl:ENST00000427770) Source type: large scale study | |||||||
COSV62806701 rs61756177 | 201 | A>T | Benign (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated - low confidence (0.1) Somatic: Yes Accession: NC_000022.11:g.37977963C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977963C>T Locations: - p.Ala201Thr (Ensembl:ENST00000427770) - c.601G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs138500876 | 202 | A>P | Likely benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000022.11:g.37977960C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977960C>G Locations: - p.Ala202Pro (Ensembl:ENST00000427770) - c.604G>C (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
RCV000839752 RCV004538152 rs138500876 | 202 | A>T | SOX10-related disorder (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.4) Somatic: No Population frequencies: - MAF: 0.0014 (ClinVar) Accession: NC_000022.11:g.37977960C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977960C>T Locations: - p.Ala202Thr (Ensembl:ENST00000427770) - c.604G>A (Ensembl:ENST00000427770) Disease association: - SOX10-related disorder Source type: large scale study | |||||||
rs1394520920 | 202 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.51) Somatic: No Accession: NC_000022.11:g.37977959G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977959G>A Locations: - p.Ala202Val (Ensembl:ENST00000427770) - c.605C>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1932272999 | 203 | I>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.64) Somatic: No Accession: NC_000022.11:g.37977957T>G Codon: ATC/CTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977957T>G Locations: - p.Ile203Leu (Ensembl:ENST00000427770) - c.607A>C (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1932272999 | 203 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.54) Somatic: No Accession: NC_000022.11:g.37977957T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977957T>C Locations: - p.Ile203Val (Ensembl:ENST00000427770) - c.607A>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
RCV002250946 rs2145768136 | 204 | Q>* | Waardenburg syndrome type 4C (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37977954G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977954G>A Locations: - p.Gln204Ter (Ensembl:ENST00000427770) - c.610C>T (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 4C (WS4C) Source type: large scale study | |||||||
rs1261074244 | 204 | Q>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000022.11:g.37977953T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977953T>A Locations: - p.Gln204Leu (Ensembl:ENST00000427770) - c.611A>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1339941170 | 205 | A>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000022.11:g.37977950G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977950G>T Locations: - p.Ala205Asp (Ensembl:ENST00000427770) - c.614C>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs771720673 | 205 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000022.11:g.37977951C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977951C>T Locations: - p.Ala205Thr (Ensembl:ENST00000427770) - c.613G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1932272568 | 206 | H>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.124) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37977948G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977948G>A Locations: - p.His206Tyr (Ensembl:ENST00000427770) - c.616C>T (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
CA118766 RCV000007825 rs281797260 | 207 | Y>* | Waardenburg syndrome type 4C (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000022.11:g.37977943G>C Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977943G>C Locations: - p.Tyr207Ter (Ensembl:ENST00000427770) - c.621C>G (Ensembl:ENST00000427770) Disease association: - Waardenburg syndrome type 4C (WS4C) Source type: large scale study Cross-references: | |||||||
RCV001866425 RCV002271684 rs1400625808 | 208 | K>E | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.712) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000022.11:g.37977942T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977942T>C Locations: - p.Lys208Glu (Ensembl:ENST00000427770) - c.622A>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1932271968 | 209 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000022.11:g.37977938C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977938C>T Locations: - p.Ser209Asn (Ensembl:ENST00000427770) - c.626G>A (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1932272069 | 209 | S>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000022.11:g.37977939T>G Codon: AGC/CGC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977939T>G Locations: - p.Ser209Arg (Ensembl:ENST00000427770) - c.625A>C (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs761481230 | 209 | S>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000022.11:g.37977937G>C Codon: AGC/AGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977937G>C Locations: - p.Ser209Arg (Ensembl:ENST00000427770) - c.627C>G (Ensembl:ENST00000427770) Source type: large scale study | |||||||
RCV001144417 RCV001144418 rs774135262 | 210 | A>T | Waardenburg syndrome (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) PCWH syndrome (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.17) Somatic: No Population frequencies: - MAF: 0.00002421 (gnomAD) - MAF: 0.00002 (ClinVar) Accession: NC_000022.11:g.37977936C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977936C>T Locations: - p.A210T (NCI-TCGA:ENST00000427770) - p.Ala210Thr (Ensembl:ENST00000427770) - c.628G>A (Ensembl:ENST00000427770) Disease association: - PCWH syndrome - Waardenburg syndrome Source type: large scale study Cross-references: | |||||||
rs1932271323 | 211 | H>Q | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000022.11:g.37977931G>C Codon: CAC/CAG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977931G>C Locations: - p.His211Gln (Ensembl:ENST00000427770) - c.633C>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: | |||||||
rs1932271108 | 212 | L>W | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.818) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000022.11:g.37977929A>C Codon: TTG/TGG Consequence type: missense Cytogenetic band: 22q13.1 Genomic location: NC_000022.11:g.37977929A>C Locations: - p.Leu212Trp (Ensembl:ENST00000427770) - c.635T>G (Ensembl:ENST00000427770) Source type: large scale study Cross-references: |