B1ALA9 · B1ALA9_HUMAN
- ProteinRibose-phosphate pyrophosphokinase 1
- GenePRPS1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids285 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs944685055 | 2 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000023.11:g.107628633C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107628633C>T Locations: - p.Pro2Leu (Ensembl:ENST00000372418) - c.5C>T (Ensembl:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV107468748 | 2 | P>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107628633C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107628633C>A Locations: - p.Pro2Gln (cosmic curated:ENST00000372418) - c.5C>A (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054887 | 2 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107628632C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107628632C>T Locations: - p.Pro2Ser (cosmic curated:ENST00000372418) - c.4C>T (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV100978914 | 8 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107628651G>A Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107628651G>A Locations: - p.S8N (NCI-TCGA:ENST00000372418) - p.Ser8Asn (cosmic curated:ENST00000372418) - c.23G>A (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65055042 COSV65055123 | 8 | S>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107628650A>C, NC_000023.11:g.107628652C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107628650A>C, NC_000023.11:g.107628652C>A Locations: - p.Ser8Arg (cosmic curated:ENST00000372418) - c.22A>C (cosmic curated:ENST00000372418) - c.24C>A (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
RCV000995994 rs1602893221 | 9 | G>R | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107628653G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107628653G>C Locations: - p.Gly9Arg (Ensembl:ENST00000372418) - c.25G>C (Ensembl:ENST00000372418) Source type: large scale study | |||||||
rs763453976 | 10 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107628658C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107628658C>G Locations: - p.Ser10Arg (Ensembl:ENST00000372418) - c.30C>G (Ensembl:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65055166 | 11 | S>P | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107628659T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107628659T>C Locations: - p.Ser11Pro (cosmic curated:ENST00000372418) - c.31T>C (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV100978910 | 13 | Q>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107628665C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107628665C>A Locations: - p.Gln13Lys (cosmic curated:ENST00000372418) - c.37C>A (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
CA413799909 RCV000590944 rs1556297584 | 16 | S>F | Retinal dystrophy (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000023.11:g.107628675C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107628675C>T Locations: - p.Ser16Phe (Ensembl:ENST00000372418) - c.47C>T (Ensembl:ENST00000372418) Disease association: - Retinal dystrophy Source type: large scale study Cross-references: | |||||||
VAR_072719 CA352184 RCV000208733 rs869025594 | 16 | S>P | found in patients with phosphoribosyl pyrophosphate synthetase I deficiency; likely pathogenic (UniProt) Charcot-Marie-Tooth disease X-linked recessive 5 (ClinVar) | Pathogenic (Ensembl, ClinVar) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000023.11:g.107628674T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107628674T>C Locations: - p.Ser16Pro (UniProt:P60891) - p.Ser16Pro (Ensembl:ENST00000372418) - c.46T>C (Ensembl:ENST00000372418) Disease association: - Charcot-Marie-Tooth disease X-linked recessive 5 Source type: mixed Cross-references: | |||||||
COSV65055309 | 16 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107628675C>A Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107628675C>A Locations: - p.S16Y (NCI-TCGA:ENST00000372418) - p.Ser16Tyr (cosmic curated:ENST00000372418) - c.47C>A (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV100978922 | 21 | D>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107628690A>T Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107628690A>T Locations: - p.D21V (NCI-TCGA:ENST00000372418) - p.Asp21Val (cosmic curated:ENST00000372418) - c.62A>T (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65055130 | 30 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107628717T>C Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107628717T>C Locations: - p.V30A (NCI-TCGA:ENST00000372418) - p.Val30Ala (cosmic curated:ENST00000372418) - c.89T>C (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
rs1420121060 | 31 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000023.11:g.107628719G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107628719G>T Locations: - p.Val31Leu (Ensembl:ENST00000372418) - c.91G>T (Ensembl:ENST00000372418) Source type: large scale study Cross-references: | |||||||
rs1569436817 | 32 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000023.11:g.107628722A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107628722A>G Locations: - p.Thr32Ala (Ensembl:ENST00000372418) - c.94A>G (Ensembl:ENST00000372418) Source type: large scale study Cross-references: | |||||||
rs780954680 | 36 | S>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000023.11:g.107628735G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107628735G>C Locations: - p.Ser36Thr (Ensembl:ENST00000372418) - c.107G>C (Ensembl:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV105297996 | 38 | Q>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107628741A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107628741A>T Locations: - p.Gln38Leu (cosmic curated:ENST00000372418) - c.113A>T (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
VAR_036941 CA340958 RCV000010612 rs80338731 | 43 | E>D | CMTX5 (UniProt) Charcot-Marie-Tooth disease X-linked recessive 5 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000023.11:g.107639301A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639301A>C Locations: - p.Glu43Asp (UniProt:P60891) - p.Glu43Asp (Ensembl:ENST00000372418) - c.129A>C (Ensembl:ENST00000372418) Disease association: - Charcot-Marie-Tooth disease X-linked recessive 5 - Charcot-Marie-Tooth disease, X-linked recessive, 5 (CMTX5) Source type: mixed Cross-references: | |||||||
RCV004556094 rs2147681381 | 43 | E>K | Arts syndrome (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000023.11:g.107639299G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639299G>A Locations: - p.Glu43Lys (Ensembl:ENST00000372418) - c.127G>A (Ensembl:ENST00000372418) Disease association: - Arts syndrome (ARTS) Source type: large scale study | |||||||
RCV002034013 rs2147681393 | 48 | V>A | Charcot-Marie-Tooth Neuropathy X (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.869) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107639315T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639315T>C Locations: - p.Val48Ala (Ensembl:ENST00000372418) - c.143T>C (Ensembl:ENST00000372418) Disease association: - Charcot-Marie-Tooth Neuropathy X Source type: large scale study | |||||||
rs1925521031 | 49 | R>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.436) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000023.11:g.107639318G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639318G>A Locations: - p.Arg49His (Ensembl:ENST00000372418) - c.146G>A (Ensembl:ENST00000372418) Source type: large scale study Cross-references: | |||||||
RCV001912928 rs2147681403 | 50 | G>E | Charcot-Marie-Tooth Neuropathy X (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.155) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107639321G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639321G>A Locations: - p.Gly50Glu (Ensembl:ENST00000372418) - c.149G>A (Ensembl:ENST00000372418) Disease association: - Charcot-Marie-Tooth Neuropathy X Source type: large scale study | |||||||
COSV100978883 | 51 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107639323G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107639323G>A Locations: - p.Glu51Lys (cosmic curated:ENST00000372418) - c.151G>A (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV100978868 COSV100978883 | 51 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107639323G>C Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639323G>C Locations: - p.E51Q (NCI-TCGA:ENST00000372418) - p.Glu51Gln (cosmic curated:ENST00000372418) - c.151G>C (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054610 | 51 | E>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107639324A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107639324A>T Locations: - p.Glu51Val (cosmic curated:ENST00000372418) - c.152A>T (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
VAR_016044 CA254937 RCV000010608 rs137852542 | 52 | D>H | PRPS1 superactivity; no effect on Km; resistant to inhibition by ADP and GDP (UniProt) Phosphoribosylpyrophosphate synthetase superactivity (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000023.11:g.107639326G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639326G>C Locations: - p.Asp52His (UniProt:P60891) - p.Asp52His (Ensembl:ENST00000372418) - c.154G>C (Ensembl:ENST00000372418) Disease association: - Phosphoribosylpyrophosphate synthetase superactivity - Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) Source type: mixed Cross-references: | |||||||
RCV002269742 rs2147681410 | 54 | Y>H | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.916) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000023.11:g.107639332T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639332T>C Locations: - p.Tyr54His (Ensembl:ENST00000372418) - c.160T>C (Ensembl:ENST00000372418) Source type: large scale study | |||||||
COSV100978848 rs773719662 | 62 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious - low confidence (0.05) Somatic: Yes Population frequencies: - MAF: 0.00000545 (gnomAD) Accession: NC_000023.11:g.107639356G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639356G>A Locations: - p.E62K (NCI-TCGA:ENST00000372418) - p.Glu62Lys (Ensembl:ENST00000372418) - c.184G>A (Ensembl:ENST00000372418) Source type: large scale study | |||||||
RCV001924777 rs2147681443 | 64 | N>D | Charcot-Marie-Tooth Neuropathy X (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107639362A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639362A>G Locations: - p.Asn64Asp (Ensembl:ENST00000372418) - c.190A>G (Ensembl:ENST00000372418) Disease association: - Charcot-Marie-Tooth Neuropathy X Source type: large scale study | |||||||
COSV100978902 | 64 | N>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107639364T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107639364T>G Locations: - p.Asn64Lys (cosmic curated:ENST00000372418) - c.192T>G (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
VAR_063522 CA254945 RCV000010616 rs180177151 | 65 | D>N | DFNX1 (UniProt) Hearing loss, X-linked 1 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000023.11:g.107639365G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639365G>A Locations: - p.Asp65Asn (UniProt:P60891) - p.Asp65Asn (Ensembl:ENST00000372418) - c.193G>A (Ensembl:ENST00000372418) Disease association: - Deafness, X-linked, 1 (DFNX1) - Hearing loss, X-linked 1 Source type: mixed Cross-references: | |||||||
COSV65054253 | 65 | D>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107639365G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107639365G>T Locations: - p.Asp65Tyr (cosmic curated:ENST00000372418) - c.193G>T (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
rs1925521902 | 67 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.866) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107639373A>C Codon: TTA/TTC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639373A>C Locations: - p.Leu67Phe (Ensembl:ENST00000372418) - c.201A>C (Ensembl:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV108220249 | 67 | L>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107639371T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107639371T>G Locations: - p.Leu67Val (cosmic curated:ENST00000372418) - c.199T>G (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
RCV001752746 rs2147681453 | 69 | E>K | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.92) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000023.11:g.107639377G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639377G>A Locations: - p.Glu69Lys (Ensembl:ENST00000372418) - c.205G>A (Ensembl:ENST00000372418) Source type: large scale study | |||||||
COSV65054519 | 71 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107639385G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107639385G>T Locations: - p.Leu71Phe (cosmic curated:ENST00000372418) - c.213G>T (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054525 | 73 | M>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107639391G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107639391G>T Locations: - p.Met73Ile (cosmic curated:ENST00000372418) - c.219G>T (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054277 RCV001765056 rs2147681457 | 74 | I>V | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000023.11:g.107639392A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639392A>G Locations: - p.Ile74Val (Ensembl:ENST00000372418) - c.220A>G (Ensembl:ENST00000372418) Source type: large scale study Cross-references: | |||||||
RCV001752585 rs2147681459 | 75 | N>T | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107639396A>C Codon: AAT/ACT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639396A>C Locations: - p.Asn75Thr (Ensembl:ENST00000372418) - c.224A>C (Ensembl:ENST00000372418) Source type: large scale study | |||||||
COSV65054249 | 82 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107639416G>A Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639416G>A Locations: - p.A82T (NCI-TCGA:ENST00000372418) - p.Ala82Thr (cosmic curated:ENST00000372418) - c.244G>A (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
CA10577651 RCV000217138 RCV000654845 rs876661263 | 83 | S>C | Charcot-Marie-Tooth Neuropathy X (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000023.11:g.107639419A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639419A>T Locations: - p.Ser83Cys (Ensembl:ENST00000372418) - c.247A>T (Ensembl:ENST00000372418) Disease association: - Charcot-Marie-Tooth Neuropathy X Source type: large scale study Cross-references: | |||||||
rs767243595 | 83 | S>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000023.11:g.107639420G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639420G>T Locations: - p.Ser83Ile (Ensembl:ENST00000372418) - c.248G>T (Ensembl:ENST00000372418) Source type: large scale study | |||||||
RCV001576926 RCV001866068 rs2147681484 | 84 | R>W | Charcot-Marie-Tooth Neuropathy X (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.188) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000023.11:g.107639422C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639422C>T Locations: - p.Arg84Trp (Ensembl:ENST00000372418) - c.250C>T (Ensembl:ENST00000372418) Disease association: - Charcot-Marie-Tooth Neuropathy X Source type: large scale study Cross-references: | |||||||
COSV100978890 | 85 | V>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107639426T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107639426T>C Locations: - p.Val85Ala (cosmic curated:ENST00000372418) - c.254T>C (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
VAR_063523 CA254947 COSV65054574 RCV000010617 RCV001851782 rs180177152 | 87 | A>T | DFNX1 (UniProt) Charcot-Marie-Tooth Neuropathy X (ClinVar) Hearing loss, X-linked 1 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107639431G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639431G>A Locations: - p.Ala87Thr (UniProt:P60891) - p.Ala87Thr (Ensembl:ENST00000372418) - c.259G>A (Ensembl:ENST00000372418) Disease association: - Charcot-Marie-Tooth Neuropathy X - Deafness, X-linked, 1 (DFNX1) - Hearing loss, X-linked 1 Source type: mixed | |||||||
rs2147681506 | 91 | C>S | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000023.11:g.107639443T>A Codon: TGC/AGC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639443T>A Locations: - p.Cys91Ser (Ensembl:ENST00000372418) - c.271T>A (Ensembl:ENST00000372418) Source type: large scale study Cross-references: | |||||||
RCV000805354 TCGA novel rs1602900770 | 91 | C>Y | Charcot-Marie-Tooth Neuropathy X (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar NCI-TCGA Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000023.11:g.107639444G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639444G>A Locations: - p.C91Y (NCI-TCGA:ENST00000372418) - p.Cys91Tyr (Ensembl:ENST00000372418) - c.272G>A (Ensembl:ENST00000372418) Disease association: - Charcot-Marie-Tooth Neuropathy X Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV105297986 | 94 | Y>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107639454T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107639454T>A Locations: - p.Tyr94Ter (cosmic curated:ENST00000372418) - c.282T>A (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV100978837 | 95 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107639456C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107639456C>T Locations: - p.Ala95Val (cosmic curated:ENST00000372418) - c.284C>T (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054296 RCV001584942 RCV002573283 rs2147681509 | 96 | R>Q | Charcot-Marie-Tooth Neuropathy X (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: tolerated - low confidence (0.07) Somatic: Yes Accession: NC_000023.11:g.107639459G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639459G>A Locations: - p.Arg96Gln (Ensembl:ENST00000372418) - c.287G>A (Ensembl:ENST00000372418) Disease association: - Charcot-Marie-Tooth Neuropathy X Source type: large scale study Cross-references: | |||||||
COSV65054258 | 96 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107639458C>T Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639458C>T Locations: - p.R96W (NCI-TCGA:ENST00000372418) - p.Arg96Trp (cosmic curated:ENST00000372418) - c.286C>T (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
CA413805796 RCV000523068 rs1556299580 | 101 | D>N | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000023.11:g.107639473G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639473G>A Locations: - p.Asp101Asn (Ensembl:ENST00000372418) - c.301G>A (Ensembl:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054251 | 101 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107639473G>T Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107639473G>T Locations: - p.D101Y (NCI-TCGA:ENST00000372418) - p.Asp101Tyr (cosmic curated:ENST00000372418) - c.301G>T (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV100978875 | 105 | F>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107642372T>G Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107642372T>G Locations: - p.F105V (NCI-TCGA:ENST00000372418) - p.Phe105Val (cosmic curated:ENST00000372418) - c.313T>G (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054549 | 106 | D>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107642375G>C Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107642375G>C Locations: - p.D106H (NCI-TCGA:ENST00000372418) - p.Asp106His (cosmic curated:ENST00000372418) - c.316G>C (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
RCV000984484 rs1602902855 | 108 | P>L | Arts syndrome (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.849) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107642382C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107642382C>T Locations: - p.Pro108Leu (Ensembl:ENST00000372418) - c.323C>T (Ensembl:ENST00000372418) Disease association: - Arts syndrome (ARTS) Source type: large scale study | |||||||
COSV100978897 | 108 | P>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107642382C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107642382C>A Locations: - p.Pro108Gln (cosmic curated:ENST00000372418) - c.323C>A (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV100978874 | 108 | P>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107642381C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107642381C>A Locations: - p.Pro108Thr (cosmic curated:ENST00000372418) - c.322C>A (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
CA259726 RCV000022882 rs398122855 | 109 | V>L | Arts syndrome (ClinVar) Arts syndrome (arts) (Ensembl) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000023.11:g.107642384G>C Codon: GTA/CTA Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107642384G>C Locations: - p.Val109Leu (Ensembl:ENST00000372418) - c.325G>C (Ensembl:ENST00000372418) Disease association: - Arts syndrome (ARTS) Source type: large scale study Cross-references: | |||||||
COSV65054256 | 111 | N>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107642392T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107642392T>G Locations: - p.Asn111Lys (cosmic curated:ENST00000372418) - c.333T>G (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054421 | 111 | N>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107642391A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107642391A>G Locations: - p.Asn111Ser (cosmic curated:ENST00000372418) - c.332A>G (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
RCV000995614 TCGA novel rs768454424 | 112 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Phosphoribosylpyrophosphate synthetase superactivity (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar NCI-TCGA ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000023.11:g.107642393T>G Codon: TTG/GTG Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107642393T>G Locations: - p.L112V (NCI-TCGA:ENST00000372418) - p.Leu112Val (Ensembl:ENST00000372418) - c.334T>G (Ensembl:ENST00000372418) Disease association: - Phosphoribosylpyrophosphate synthetase superactivity Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV65054302 | 116 | P>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107642405C>A Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107642405C>A Locations: - p.P116T (NCI-TCGA:ENST00000372418) - p.Pro116Thr (cosmic curated:ENST00000372418) - c.346C>A (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV108220356 | 121 | W>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107642422G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107642422G>A Locations: - p.Trp121Ter (cosmic curated:ENST00000372418) - c.363G>A (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054313 | 121 | W>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107642421G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107642421G>T Locations: - p.Trp121Leu (cosmic curated:ENST00000372418) - c.362G>T (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV100978838 | 123 | R>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107642427G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107642427G>T Locations: - p.Arg123Met (cosmic curated:ENST00000372418) - c.368G>T (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV108220362 | 124 | E>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107642431G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107642431G>C Locations: - p.Glu124Asp (cosmic curated:ENST00000372418) - c.372G>C (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
rs1925594653 | 126 | I>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107642436T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107642436T>C Locations: - p.Ile126Thr (Ensembl:ENST00000372418) - c.377T>C (Ensembl:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV100978889 | 129 | W>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107642446G>T Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107642446G>T Locations: - p.W129C (NCI-TCGA:ENST00000372418) - p.Trp129Cys (cosmic curated:ENST00000372418) - c.387G>T (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054441 | 130 | R>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107642448G>A Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107642448G>A Locations: - p.R130K (NCI-TCGA:ENST00000372418) - p.Arg130Lys (cosmic curated:ENST00000372418) - c.389G>A (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
RCV001809108 RCV001869593 rs888601981 | 133 | T>I | Charcot-Marie-Tooth Neuropathy X (ClinVar) Phosphoribosylpyrophosphate synthetase superactivity (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000023.11:g.107642457C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107642457C>T Locations: - p.Thr133Ile (Ensembl:ENST00000372418) - c.398C>T (Ensembl:ENST00000372418) Disease association: - Charcot-Marie-Tooth Neuropathy X - Phosphoribosylpyrophosphate synthetase superactivity Source type: large scale study Cross-references: | |||||||
rs759133840 | 134 | I>V | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000023.11:g.107642459A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107642459A>G Locations: - p.Ile134Val (Ensembl:ENST00000372418) - c.400A>G (Ensembl:ENST00000372418) Source type: large scale study | |||||||
COSV100978891 | 137 | P>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107642469C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107642469C>A Locations: - p.Pro137His (cosmic curated:ENST00000372418) - c.410C>A (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
RCV001212370 rs1925595833 | 137 | P>S | Charcot-Marie-Tooth Neuropathy X (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.273) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107642468C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107642468C>T Locations: - p.Pro137Ser (Ensembl:ENST00000372418) - c.409C>T (Ensembl:ENST00000372418) Disease association: - Charcot-Marie-Tooth Neuropathy X Source type: large scale study | |||||||
RCV001994046 rs2147683220 | 138 | D>Y | Charcot-Marie-Tooth Neuropathy X (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107642471G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107642471G>T Locations: - p.Asp138Tyr (Ensembl:ENST00000372418) - c.412G>T (Ensembl:ENST00000372418) Disease association: - Charcot-Marie-Tooth Neuropathy X Source type: large scale study | |||||||
COSV108220244 | 139 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107642475C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107642475C>T Locations: - p.Ala139Val (cosmic curated:ENST00000372418) - c.416C>T (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV105922720 | 141 | G>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107642481G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107642481G>A Locations: - p.Gly141Glu (cosmic curated:ENST00000372418) - c.422G>A (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054237 | 141 | G>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107642480G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107642480G>A Locations: - p.Gly141Arg (cosmic curated:ENST00000372418) - c.421G>A (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054710 | 143 | K>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107642486A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107642486A>G Locations: - p.Lys143Glu (cosmic curated:ENST00000372418) - c.427A>G (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV104681283 | 144 | R>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107645177A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107645177A>C Locations: - p.Arg144Ser (cosmic curated:ENST00000372418) - c.432A>C (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054659 | 146 | T>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107645181A>C Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107645181A>C Locations: - p.T146P (NCI-TCGA:ENST00000372418) - p.Thr146Pro (cosmic curated:ENST00000372418) - c.436A>C (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054168 | 147 | S>P | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107645184T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107645184T>C Locations: - p.Ser147Pro (cosmic curated:ENST00000372418) - c.439T>C (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV100978871 | 147 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107645185C>A Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107645185C>A Locations: - p.S147Y (NCI-TCGA:ENST00000372418) - p.Ser147Tyr (cosmic curated:ENST00000372418) - c.440C>A (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
VAR_036944 COSV100978869 CA245212 RCV000010614 RCV000178182 rs80338676 | 152 | L>P | ARTS (UniProt) Arts syndrome (ClinVar) Arts syndrome (arts) (Ensembl) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt cosmic curated ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107645200T>C, NC_000023.11:g.107642415T>C Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107645200T>C, NC_000023.11:g.107642415T>C Locations: - p.Leu152Pro (cosmic curated:ENST00000372418) - c.455T>C (cosmic curated:ENST00000372418) - p.Leu152Pro (UniProt:P60891) - p.Leu119Pro (Ensembl:ENST00000372418) - c.356T>C (Ensembl:ENST00000372418) Disease association: - ARTS syndrome (ARTS) - Arts syndrome (ARTS) Source type: mixed | |||||||
COSV104681280 | 157 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107645214G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107645214G>A Locations: - p.Ala157Thr (cosmic curated:ENST00000372418) - c.469G>A (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
VAR_016046 CA254941 CM952243 COSV105922714 RCV000010610 rs137852544 | 157 | A>V | PRPS1 superactivity; no effect on Km; resistant to inhibition by ADP and GDP (UniProt) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Phosphoribosylpyrophosphate synthetase superactivity (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt, NCI-TCGA) | UniProt ClinGen NCI-TCGA cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.581) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000023.11:g.107645215C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107645215C>T Locations: - p.A157V (NCI-TCGA:ENST00000372418) - p.Ala190Val (UniProt:P60891) - p.Ala157Val (Ensembl:ENST00000372418) - c.470C>T (Ensembl:ENST00000372418) Disease association: - Phosphoribosylpyrophosphate synthetase superactivity - Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) Source type: mixed Cross-references: - NCI-TCGA: CM952243 | |||||||
rs1925665557 | 162 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107645229G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107645229G>A Locations: - p.Glu162Lys (Ensembl:ENST00000372418) - c.484G>A (Ensembl:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054190 RCV001905384 rs2147684782 | 163 | R>Q | Charcot-Marie-Tooth Neuropathy X (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.533) - SIFT: deleterious - low confidence (0.04) Somatic: Yes Accession: NC_000023.11:g.107645233G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107645233G>A Locations: - p.R163Q (NCI-TCGA:ENST00000372418) - p.Arg163Gln (Ensembl:ENST00000372418) - c.488G>A (Ensembl:ENST00000372418) Disease association: - Charcot-Marie-Tooth Neuropathy X Source type: large scale study | |||||||
CA413811807 COSV104423748 RCV000590871 RCV001857876 RCV002466527 rs1556300610 | 163 | R>W | Charcot-Marie-Tooth Neuropathy X (ClinVar) Retinal dystrophy (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.469) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Accession: NC_000023.11:g.107645232C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107645232C>T Locations: - p.Arg163Trp (Ensembl:ENST00000372418) - c.487C>T (Ensembl:ENST00000372418) Disease association: - Charcot-Marie-Tooth Neuropathy X - Retinal dystrophy Source type: large scale study | |||||||
COSV65054650 | 164 | K>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107645237G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107645237G>C Locations: - p.Lys164Asn (cosmic curated:ENST00000372418) - c.492G>C (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054583 | 166 | A>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107645241G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107645241G>T Locations: - p.Ala166Ser (cosmic curated:ENST00000372418) - c.496G>T (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
rs1424174127 | 167 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000023.11:g.107645245A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107645245A>G Locations: - p.Asn167Ser (Ensembl:ENST00000372418) - c.500A>G (Ensembl:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV105297987 | 168 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107645247G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107645247G>A Locations: - p.Glu168Lys (cosmic curated:ENST00000372418) - c.502G>A (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054359 | 169 | V>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107645250G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107645250G>A Locations: - p.Val169Met (cosmic curated:ENST00000372418) - c.505G>A (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054716 | 170 | D>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107645253G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107645253G>C Locations: - p.Asp170His (cosmic curated:ENST00000372418) - c.508G>C (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054244 RCV001047338 rs1925666328 | 171 | R>C | Charcot-Marie-Tooth Neuropathy X (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.05) Somatic: Yes Accession: NC_000023.11:g.107645256C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107645256C>T Locations: - p.R171C (NCI-TCGA:ENST00000372418) - p.Arg171Cys (Ensembl:ENST00000372418) - c.511C>T (Ensembl:ENST00000372418) Disease association: - Charcot-Marie-Tooth Neuropathy X Source type: large scale study | |||||||
RCV001367011 RCV002493873 rs1169615098 | 171 | R>H | Arts syndrome (ClinVar) Charcot-Marie-Tooth Neuropathy X (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.08) Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000023.11:g.107645257G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107645257G>A Locations: - p.Arg171His (Ensembl:ENST00000372418) - c.512G>A (Ensembl:ENST00000372418) Disease association: - Arts syndrome (ARTS) - Charcot-Marie-Tooth Neuropathy X - Charcot-Marie-Tooth disease X-linked recessive 5 - Hearing loss, X-linked 1 - Phosphoribosylpyrophosphate synthetase superactivity Source type: large scale study Cross-references: | |||||||
COSV65054566 | 171 | R>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107645257G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107645257G>T Locations: - p.Arg171Leu (cosmic curated:ENST00000372418) - c.512G>T (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV100978866 | 172 | M>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107645261G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107645261G>C Locations: - p.Met172Ile (cosmic curated:ENST00000372418) - c.516G>C (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
CA413812315 RCV000590950 rs867288458 | 181 | R>P | Retinal dystrophy (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000023.11:g.107645287G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107645287G>C Locations: - p.Arg181Pro (Ensembl:ENST00000372418) - c.542G>C (Ensembl:ENST00000372418) Disease association: - Retinal dystrophy Source type: large scale study Cross-references: | |||||||
COSV65054268 RCV001775331 RCV001822002 RCV002541044 rs867288458 | 181 | R>Q | Arts syndrome (ClinVar) Charcot-Marie-Tooth Neuropathy X (ClinVar) | Likely pathogenic (Ensembl) | cosmic curated ClinVar TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000023.11:g.107645287G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107645287G>A Locations: - p.Arg181Gln (Ensembl:ENST00000372418) - c.542G>A (Ensembl:ENST00000372418) Disease association: - Arts syndrome (ARTS) - Charcot-Marie-Tooth Neuropathy X Source type: large scale study | |||||||
CA413812308 RCV000590916 RCV001075877 RCV001196872 RCV001542719 RCV001865690 rs1556300621 | 181 | R>W | Arts syndrome (ClinVar) Charcot-Marie-Tooth Neuropathy X (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Phosphoribosylpyrophosphate synthetase superactivity (ClinVar) Retinal dystrophy (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.802) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000023.11:g.107645286C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107645286C>T Locations: - p.R181W (NCI-TCGA:ENST00000372418) - p.Arg181Trp (Ensembl:ENST00000372418) - c.541C>T (Ensembl:ENST00000372418) Disease association: - Arts syndrome (ARTS) - Charcot-Marie-Tooth Neuropathy X - Phosphoribosylpyrophosphate synthetase superactivity - Retinal dystrophy Source type: large scale study | |||||||
rs905676241 | 182 | V>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000023.11:g.107645289G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107645289G>A Locations: - p.Val182Met (Ensembl:ENST00000372418) - c.544G>A (Ensembl:ENST00000372418) Source type: large scale study Cross-references: | |||||||
VAR_004164 CA254935 RCV000010607 RCV003147280 rs137852541 | 183 | D>H | PRPS1 superactivity; no effect on Km; resistant to inhibition by ADP and GDP (UniProt) Arts syndrome (ClinVar) Phosphoribosylpyrophosphate synthetase superactivity (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000023.11:g.107645193G>C Codon: AGA/ACA Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107645193G>C Locations: - p.Asp183His (UniProt:P60891) - p.Asp150His (Ensembl:ENST00000372418) - c.448G>C (Ensembl:ENST00000372418) Disease association: - Arts syndrome (ARTS) - Phosphoribosylpyrophosphate synthetase superactivity - Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) Source type: mixed Cross-references: | |||||||
COSV100978830 | 185 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107645298C>A Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107645298C>A Locations: - p.L185I (NCI-TCGA:ENST00000372418) - p.Leu185Ile (cosmic curated:ENST00000372418) - c.553C>A (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054735 | 186 | V>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107645302T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107645302T>G Locations: - p.Val186Gly (cosmic curated:ENST00000372418) - c.557T>G (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054286 | 188 | D>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107645308A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107645308A>G Locations: - p.Asp188Gly (cosmic curated:ENST00000372418) - c.563A>G (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
RCV001902270 rs2147684832 | 191 | D>G | Charcot-Marie-Tooth Neuropathy X (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107645317A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107645317A>G Locations: - p.Asp191Gly (Ensembl:ENST00000372418) - c.572A>G (Ensembl:ENST00000372418) Disease association: - Charcot-Marie-Tooth Neuropathy X Source type: large scale study | |||||||
RCV002048412 rs2147684835 | 192 | T>A | Charcot-Marie-Tooth Neuropathy X (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.825) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000023.11:g.107645319A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107645319A>G Locations: - p.Thr192Ala (Ensembl:ENST00000372418) - c.574A>G (Ensembl:ENST00000372418) Disease association: - Charcot-Marie-Tooth Neuropathy X Source type: large scale study | |||||||
VAR_016047 CA254943 RCV000010611 rs137852545 | 193 | H>Q | PRPS1 superactivity; no effect on Km; resistant to inhibition by ADP and GDP (UniProt) Phosphoribosylpyrophosphate synthetase superactivity (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000023.11:g.107645225C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107645225C>G Locations: - p.His193Gln (UniProt:P60891) - p.His160Gln (Ensembl:ENST00000372418) - c.480C>G (Ensembl:ENST00000372418) Disease association: - Phosphoribosylpyrophosphate synthetase superactivity - Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) Source type: mixed Cross-references: | |||||||
rs769401404 | 194 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: deleterious - low confidence (0.04) Somatic: No Population frequencies: - MAF: 0.00000545 (gnomAD) Accession: NC_000023.11:g.107645326G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107645326G>A Locations: - p.G194D (NCI-TCGA:ENST00000372418) - p.Gly194Asp (Ensembl:ENST00000372418) - c.581G>A (Ensembl:ENST00000372418) Source type: large scale study | |||||||
COSV65054495 | 198 | H>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107645337C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107645337C>G Locations: - p.His198Asp (cosmic curated:ENST00000372418) - c.592C>G (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054726 | 199 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107645341C>T Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107645341C>T Locations: - p.A199V (NCI-TCGA:ENST00000372418) - p.Ala199Val (cosmic curated:ENST00000372418) - c.596C>T (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
rs200877295 | 200 | A>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.816) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000023.11:g.107645343G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107645343G>C Locations: - p.Ala200Pro (Ensembl:ENST00000372418) - c.598G>C (Ensembl:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV100978857 | 204 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107647610C>A Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107647610C>A Locations: - p.L204I (NCI-TCGA:ENST00000372418) - p.Leu204Ile (cosmic curated:ENST00000372418) - c.610C>A (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV105297988 | 205 | S>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107647614C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107647614C>T Locations: - p.Ser205Leu (cosmic curated:ENST00000372418) - c.614C>T (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV100978886 | 206 | A>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107647617C>A Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107647617C>A Locations: - p.A206D (NCI-TCGA:ENST00000372418) - p.Ala206Asp (cosmic curated:ENST00000372418) - c.617C>A (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV100978892 RCV001816551 rs2147686021 | 207 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.586) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000023.11:g.107647620G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107647620G>A Locations: - p.G207D (NCI-TCGA:ENST00000372418) - p.Gly207Asp (Ensembl:ENST00000372418) - c.620G>A (Ensembl:ENST00000372418) Source type: large scale study | |||||||
COSV65054243 | 208 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107647622G>A Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107647622G>A Locations: - p.A208T (NCI-TCGA:ENST00000372418) - p.Ala208Thr (cosmic curated:ENST00000372418) - c.622G>A (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054127 | 209 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107647626C>T Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107647626C>T Locations: - p.T209I (NCI-TCGA:ENST00000372418) - p.Thr209Ile (cosmic curated:ENST00000372418) - c.626C>T (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV100978898 | 213 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107647638C>T Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107647638C>T Locations: - p.A213V (NCI-TCGA:ENST00000372418) - p.Ala213Val (cosmic curated:ENST00000372418) - c.638C>T (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054263 | 214 | I>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107647640A>T Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107647640A>T Locations: - p.I214F (NCI-TCGA:ENST00000372418) - p.Ile214Phe (cosmic curated:ENST00000372418) - c.640A>T (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV100978894 | 218 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107647653G>A Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107647653G>A Locations: - p.G218E (NCI-TCGA:ENST00000372418) - p.Gly218Glu (cosmic curated:ENST00000372418) - c.653G>A (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054535 COSV65054656 | 222 | G>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107647664G>T Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107647664G>T Locations: - p.G222C (NCI-TCGA:ENST00000372418) - p.Gly222Cys (cosmic curated:ENST00000372418) - c.664G>T (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054535 COSV65054656 rs1423101228 | 222 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.316) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Accession: NC_000023.11:g.107647664G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107647664G>A Locations: - p.G222S (NCI-TCGA:ENST00000372418) - p.Gly222Ser (Ensembl:ENST00000372418) - c.664G>A (Ensembl:ENST00000372418) Source type: large scale study | |||||||
RCV001931002 rs2147686040 | 224 | A>T | Charcot-Marie-Tooth Neuropathy X (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.876) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107647670G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107647670G>A Locations: - p.Ala224Thr (Ensembl:ENST00000372418) - c.670G>A (Ensembl:ENST00000372418) Disease association: - Charcot-Marie-Tooth Neuropathy X Source type: large scale study | |||||||
CA413814641 RCV000494382 RCV001359465 rs1131691495 | 227 | R>H | Charcot-Marie-Tooth Neuropathy X (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.094) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000023.11:g.107647680G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107647680G>A Locations: - p.Arg227His (Ensembl:ENST00000372418) - c.680G>A (Ensembl:ENST00000372418) Disease association: - Charcot-Marie-Tooth Neuropathy X Source type: large scale study Cross-references: | |||||||
rs1460511404 | 228 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000023.11:g.107647682A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107647682A>G Locations: - p.Ile228Val (Ensembl:ENST00000372418) - c.682A>G (Ensembl:ENST00000372418) Source type: large scale study Cross-references: | |||||||
rs745426742 | 229 | N>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.356) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107647685A>C Codon: AAC/CAC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107647685A>C Locations: - p.Asn229His (Ensembl:ENST00000372418) - c.685A>C (Ensembl:ENST00000372418) Source type: large scale study Cross-references: | |||||||
rs921320056 | 229 | N>S | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000023.11:g.107647686A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107647686A>G Locations: - p.Asn229Ser (Ensembl:ENST00000372418) - c.686A>G (Ensembl:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054511 rs1925732117 | 231 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.06) Somatic: Yes Accession: NC_000023.11:g.107647691G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107647691G>A Locations: - p.A231T (NCI-TCGA:ENST00000372418) - p.Ala231Thr (Ensembl:ENST00000372418) - c.691G>A (Ensembl:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054246 | 233 | F>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107647698T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107647698T>C Locations: - p.Phe233Ser (cosmic curated:ENST00000372418) - c.698T>C (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
rs1241819619 | 236 | V>I | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000023.11:g.107647706G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107647706G>A Locations: - p.Val236Ile (Ensembl:ENST00000372418) - c.706G>A (Ensembl:ENST00000372418) Source type: large scale study Cross-references: | |||||||
RCV001921971 rs1241819619 | 236 | V>L | Charcot-Marie-Tooth Neuropathy X (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0.03) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000023.11:g.107647706G>T Codon: GTA/TTA Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107647706G>T Locations: - p.Val236Leu (Ensembl:ENST00000372418) - c.706G>T (Ensembl:ENST00000372418) Disease association: - Charcot-Marie-Tooth Neuropathy X Source type: large scale study Cross-references: | |||||||
rs1925732796 | 239 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.805) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000023.11:g.107647716C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107647716C>T Locations: - p.Thr239Ile (Ensembl:ENST00000372418) - c.716C>T (Ensembl:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV100978864 | 240 | N>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107647719A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107647719A>G Locations: - p.Asn240Ser (cosmic curated:ENST00000372418) - c.719A>G (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
rs1263272628 | 242 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000023.11:g.107647724A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107647724A>G Locations: - p.Ile242Val (Ensembl:ENST00000372418) - c.724A>G (Ensembl:ENST00000372418) Source type: large scale study Cross-references: | |||||||
RCV001075223 rs1925733148 | 243 | P>L | Retinal dystrophy (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.14) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107647728C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107647728C>T Locations: - p.Pro243Leu (Ensembl:ENST00000372418) - c.728C>T (Ensembl:ENST00000372418) Disease association: - Retinal dystrophy Source type: large scale study | |||||||
COSV100978899 | 243 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107647727C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107647727C>T Locations: - p.Pro243Ser (cosmic curated:ENST00000372418) - c.727C>T (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
rs2147686093 | 244 | Q>* | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.107647730C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107647730C>T Locations: - p.Gln244Ter (Ensembl:ENST00000372418) - c.730C>T (Ensembl:ENST00000372418) Source type: large scale study Cross-references: | |||||||
RCV001889969 rs2147686093 | 244 | Q>E | Charcot-Marie-Tooth Neuropathy X (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107647730C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107647730C>G Locations: - p.Gln244Glu (Ensembl:ENST00000372418) - c.730C>G (Ensembl:ENST00000372418) Disease association: - Charcot-Marie-Tooth Neuropathy X Source type: large scale study | |||||||
CA352190 RCV000208721 RCV000208743 rs869025593 | 244 | Q>P | Arts syndrome (ClinVar) Arts syndrome (arts) (Ensembl) Hearing loss, X-linked 1 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000023.11:g.107647731A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107647731A>C Locations: - p.Gln244Pro (Ensembl:ENST00000372418) - c.731A>C (Ensembl:ENST00000372418) Disease association: - Arts syndrome (ARTS) - Hearing loss, X-linked 1 Source type: large scale study Cross-references: | |||||||
COSV65054172 | 247 | K>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107647740A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107647740A>G Locations: - p.Lys247Arg (cosmic curated:ENST00000372418) - c.740A>G (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054546 | 248 | M>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107647744G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107647744G>T Locations: - p.Met248Ile (cosmic curated:ENST00000372418) - c.744G>T (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
RCV001334081 rs1925733763 | 248 | M>R | Arts syndrome (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000023.11:g.107647743T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107647743T>G Locations: - p.Met248Arg (Ensembl:ENST00000372418) - c.743T>G (Ensembl:ENST00000372418) Disease association: - Arts syndrome (ARTS) Source type: large scale study | |||||||
rs1925734292 | 254 | I>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000023.11:g.107647760A>T Codon: ATA/TTA Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107647760A>T Locations: - p.Ile254Leu (Ensembl:ENST00000372418) - c.760A>T (Ensembl:ENST00000372418) Source type: large scale study Cross-references: | |||||||
RCV001406555 rs1229690158 | 257 | I>V | Charcot-Marie-Tooth Neuropathy X (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.07) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000023.11:g.107649943A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107649943A>G Locations: - p.Ile257Val (Ensembl:ENST00000372418) - c.769A>G (Ensembl:ENST00000372418) Disease association: - Charcot-Marie-Tooth Neuropathy X Source type: large scale study | |||||||
COSV104681286 | 263 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107649961C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107649961C>T Locations: - p.Leu263Phe (cosmic curated:ENST00000372418) - c.787C>T (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
rs867662574 | 264 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.805) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107649964G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107649964G>A Locations: - p.Ala264Thr (Ensembl:ENST00000372418) - c.790G>A (Ensembl:ENST00000372418) Source type: large scale study Cross-references: | |||||||
rs763915105 | 267 | I>T | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.4) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000023.11:g.107649974T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107649974T>C Locations: - p.Ile267Thr (Ensembl:ENST00000372418) - c.800T>C (Ensembl:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV105297993 | 268 | R>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107649977G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107649977G>A Locations: - p.Arg268Lys (cosmic curated:ENST00000372418) - c.803G>A (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV100978845 | 269 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107649980G>T Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107649980G>T Locations: - p.R269I (NCI-TCGA:ENST00000372418) - p.Arg269Ile (cosmic curated:ENST00000372418) - c.806G>T (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
rs751468763 | 272 | N>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107649990T>A Codon: AAT/AAA Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107649990T>A Locations: - p.Asn272Lys (Ensembl:ENST00000372418) - c.816T>A (Ensembl:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054436 | 273 | G>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107649992G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107649992G>T Locations: - p.Gly273Val (cosmic curated:ENST00000372418) - c.818G>T (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
CA270662 RCV000143860 rs587781263 | 276 | V>F | Charcot-Marie-Tooth disease X-linked recessive 5 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.499) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.107650000G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107650000G>T Locations: - p.Val276Phe (Ensembl:ENST00000372418) - c.826G>T (Ensembl:ENST00000372418) Disease association: - Charcot-Marie-Tooth disease X-linked recessive 5 Source type: large scale study Cross-references: | |||||||
COSV65054425 | 279 | L>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107650009C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107650009C>G Locations: - p.Leu279Val (cosmic curated:ENST00000372418) - c.835C>G (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV65054569 | 283 | V>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107650021G>T Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107650021G>T Locations: - p.V283F (NCI-TCGA:ENST00000372418) - p.Val283Phe (cosmic curated:ENST00000372418) - c.847G>T (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
COSV104681281 | 283 | V>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.107650021G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.107650021G>C Locations: - p.Val283Leu (cosmic curated:ENST00000372418) - c.847G>C (cosmic curated:ENST00000372418) Source type: large scale study Cross-references: | |||||||
VAR_063524 CA254951 RCV000010619 rs180177153 | 290 | I>T | DFNX1 (UniProt) Hearing loss, X-linked 1 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000023.11:g.107649944T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107649944T>C Locations: - p.Ile290Thr (UniProt:P60891) - p.Ile257Thr (Ensembl:ENST00000372418) - c.770T>C (Ensembl:ENST00000372418) Disease association: - Deafness, X-linked, 1 (DFNX1) - Hearing loss, X-linked 1 Source type: mixed Cross-references: | |||||||
VAR_063525 CA254949 RCV000010618 rs180177154 | 306 | G>R | DFNX1 (UniProt) Hearing loss, X-linked 1 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000023.11:g.107649991G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: Xq22.3 Genomic location: NC_000023.11:g.107649991G>A Locations: - p.Gly306Arg (UniProt:P60891) - p.Gly273Arg (Ensembl:ENST00000372418) - c.817G>A (Ensembl:ENST00000372418) Disease association: - Deafness, X-linked, 1 (DFNX1) - Hearing loss, X-linked 1 Source type: mixed Cross-references: |