P08247 · SYPH_HUMAN
- ProteinSynaptophysin
- GeneSYP
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids313 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
RCV001754743 rs1303115956 | 1 | M>I | Variant of uncertain significance (ClinVar) | ClinVar dbSNP | |||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00006 (ClinVar) Accession: NC_000023.11:g.49200184C>T Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49200184C>T Locations: - p.Met1Ile (ClinVar:ENST00000263233) Source type: large scale study Cross-references: | |||||||
RCV001824549 rs1557103814 | 1 | M>T | Intellectual disability, X-linked 96 (ClinVar) | Likely pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000023.11:g.49200185A>G Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49200185A>G Locations: - p.Met1Thr (ClinVar:ENST00000263233) Disease association: - Intellectual disability, X-linked 96 (XLID96) Source type: large scale study Cross-references: | |||||||
rs200470034 | 2 | L>P | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.906) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000023.11:g.49200182A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49200182A>G Locations: - p.Leu2Pro (Ensembl:ENST00000263233) - c.5T>C (Ensembl:ENST00000263233) - p.Leu2Pro (Ensembl:ENST00000479808) - c.5T>C (Ensembl:ENST00000479808) Source type: large scale study | |||||||
VAR_062983 CA208320 RCV000194262 RCV003221851 rs200470034 | 2 | L>Q | Likely benign (Ensembl, ClinVar) | UniProt ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00012 (ClinVar) Accession: NC_000023.11:g.49200182A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49200182A>T Locations: - p.Leu2Gln (UniProt:P08247) Source type: mixed | |||||||
rs200470034 | 2 | L>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Likely benign (Ensembl) | ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.902) - SIFT: deleterious - low confidence (0) - PolyPhen: possibly damaging (0.906) - SIFT: tolerated - low confidence (0.12) Somatic: No Population frequencies: - MAF: 0.000009631 (gnomAD) Accession: NC_000023.11:g.49200182A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49200182A>C Locations: - p.L2R (NCI-TCGA:ENST00000263233) - p.L2R (NCI-TCGA:ENST00000479808) - p.Leu2Arg (Ensembl:ENST00000263233) - c.5T>G (Ensembl:ENST00000263233) - p.Leu2Arg (Ensembl:ENST00000479808) - c.5T>G (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV54294454 | 3 | L>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49200180G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49200180G>T Locations: - p.Leu3Met (cosmic curated:ENST00000479808) - c.7C>A (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs2065546288 | 3 | L>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.906) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.49200179A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49200179A>C Locations: - p.Leu3Arg (Ensembl:ENST00000263233) - c.8T>G (Ensembl:ENST00000263233) - p.Leu3Arg (Ensembl:ENST00000479808) - c.8T>G (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs2065546307 | 3 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.49200180G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49200180G>C Locations: - p.Leu3Val (Ensembl:ENST00000263233) - c.7C>G (Ensembl:ENST00000263233) - p.Leu3Val (Ensembl:ENST00000479808) - c.7C>G (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs1276684084 | 4 | L>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.093) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.49200176A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49200176A>C Locations: - p.Leu4Arg (Ensembl:ENST00000479808) - c.11T>G (Ensembl:ENST00000479808) - p.Leu4Arg (Ensembl:ENST00000263233) - c.11T>G (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs782485418 | 5 | A>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.286) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000023.11:g.49200173G>T Codon: GCG/GAG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49200173G>T Locations: - p.Ala5Glu (Ensembl:ENST00000263233) - c.14C>A (Ensembl:ENST00000263233) - p.Ala5Glu (Ensembl:ENST00000479808) - c.14C>A (Ensembl:ENST00000479808) Source type: large scale study | |||||||
rs2065546193 | 5 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.223) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000023.11:g.49200174C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49200174C>T Locations: - p.Ala5Thr (Ensembl:ENST00000479808) - c.13G>A (Ensembl:ENST00000479808) - p.Ala5Thr (Ensembl:ENST00000263233) - c.13G>A (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs782485418 | 5 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.223) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000023.11:g.49200173G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49200173G>A Locations: - p.Ala5Val (Ensembl:ENST00000263233) - c.14C>T (Ensembl:ENST00000263233) - p.Ala5Val (Ensembl:ENST00000479808) - c.14C>T (Ensembl:ENST00000479808) Source type: large scale study | |||||||
COSV105032147 | 7 | M>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49200166C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49200166C>T Locations: - p.Met7Ile (cosmic curated:ENST00000479808) - c.21G>A (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs2065546113 | 8 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000023.11:g.49200163G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49200163G>T Locations: - p.Asp8Glu (Ensembl:ENST00000479808) - c.24C>A (Ensembl:ENST00000479808) - p.Asp8Glu (Ensembl:ENST00000263233) - c.24C>A (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs2065546136 | 8 | D>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.545) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.49200164T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49200164T>C Locations: - p.Asp8Gly (Ensembl:ENST00000263233) - c.23A>G (Ensembl:ENST00000263233) - p.Asp8Gly (Ensembl:ENST00000479808) - c.23A>G (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs1557103807 | 9 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.749) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000023.11:g.49200162C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49200162C>T Locations: - p.Val9Met (Ensembl:ENST00000263233) - c.25G>A (Ensembl:ENST00000263233) - p.Val9Met (Ensembl:ENST00000479808) - c.25G>A (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs2065546076 | 10 | V>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.891) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.49200159C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49200159C>T Locations: - p.Val10Met (Ensembl:ENST00000263233) - c.28G>A (Ensembl:ENST00000263233) - p.Val10Met (Ensembl:ENST00000479808) - c.28G>A (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs1557103805 | 11 | N>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49200156T>A Codon: AAT/TAT Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49200156T>A Locations: - p.Asn11Tyr (Ensembl:ENST00000479808) - c.31A>T (Ensembl:ENST00000479808) - p.Asn11Tyr (Ensembl:ENST00000263233) - c.31A>T (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs1291508265 | 12 | Q>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.379) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000023.11:g.49200153G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49200153G>C Locations: - p.Gln12Glu (Ensembl:ENST00000263233) - c.34C>G (Ensembl:ENST00000263233) - p.Gln12Glu (Ensembl:ENST00000479808) - c.34C>G (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV54294827 | 14 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: tolerated (0.18) Somatic: Yes Accession: NC_000023.11:g.49199029A>G Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49199029A>G Locations: - c.41T>C (NCI-TCGA:ENST00000263233) - p.V14A (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: | |||||||
COSV108088243 | 15 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49199026G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49199026G>A Locations: - p.Ala15Val (cosmic curated:ENST00000479808) - c.44C>T (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
RCV002269716 rs2147884814 | 16 | G>R | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000023.11:g.49199024C>G Codon: GGG/CGG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49199024C>G Locations: - p.Gly16Arg (Ensembl:ENST00000263233) - c.46G>C (Ensembl:ENST00000263233) - p.Gly16Arg (Ensembl:ENST00000479808) - c.46G>C (Ensembl:ENST00000479808) Source type: large scale study | |||||||
COSV54297281 | 16 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.297) - SIFT: tolerated (0.47) Somatic: Yes Accession: NC_000023.11:g.49199023C>A Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49199023C>A Locations: - c.47G>T (NCI-TCGA:ENST00000263233) - p.G16V (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: | |||||||
COSV99602778 | 17 | G>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49199021C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49199021C>T Locations: - p.Gly17Ser (cosmic curated:ENST00000479808) - c.49G>A (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs781815856 | 18 | Q>H | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.666) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.49199016C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49199016C>G Locations: - p.Gln18His (Ensembl:ENST00000479808) - c.54G>C (Ensembl:ENST00000479808) - p.Gln18His (Ensembl:ENST00000263233) - c.54G>C (Ensembl:ENST00000263233) Source type: large scale study | |||||||
rs372570311 | 20 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.38) - PolyPhen: benign (0.005) - SIFT: tolerated (0.17) Somatic: No Population frequencies: - MAF: 0.0000221 (gnomAD) Accession: NC_000023.11:g.49199011C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49199011C>T Locations: - p.R20Q (NCI-TCGA:ENST00000263233) - p.R20Q (NCI-TCGA:ENST00000479808) - p.Arg20Gln (Ensembl:ENST00000479808) - c.59G>A (Ensembl:ENST00000479808) - p.Arg20Gln (Ensembl:ENST00000263233) - c.59G>A (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs140440507 | 20 | R>W | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.638) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49199012G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49199012G>A Locations: - p.Arg20Trp (Ensembl:ENST00000479808) - c.58C>T (Ensembl:ENST00000479808) - p.Arg20Trp (Ensembl:ENST00000263233) - c.58C>T (Ensembl:ENST00000263233) Source type: large scale study | |||||||
rs1165557985 | 21 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.49199009C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49199009C>T Locations: - p.Val21Met (Ensembl:ENST00000263233) - c.61G>A (Ensembl:ENST00000263233) - p.Val21Met (Ensembl:ENST00000479808) - c.61G>A (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs782036302 | 22 | V>A | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.639) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000023.11:g.49199005A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49199005A>G Locations: - p.Val22Ala (Ensembl:ENST00000479808) - c.65T>C (Ensembl:ENST00000479808) - p.Val22Ala (Ensembl:ENST00000263233) - c.65T>C (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs1368083616 | 24 | E>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000023.11:g.49198999T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49198999T>A Locations: - p.Glu24Val (Ensembl:ENST00000263233) - c.71A>T (Ensembl:ENST00000263233) - p.Glu24Val (Ensembl:ENST00000479808) - c.71A>T (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs1557103657 | 25 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.49198997G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49198997G>C Locations: - p.Pro25Ala (Ensembl:ENST00000263233) - c.73C>G (Ensembl:ENST00000263233) - p.Pro25Ala (Ensembl:ENST00000479808) - c.73C>G (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs1557103656 | 27 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.49198991C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49198991C>T Locations: - p.Gly27Ser (Ensembl:ENST00000263233) - c.79G>A (Ensembl:ENST00000263233) - p.Gly27Ser (Ensembl:ENST00000479808) - c.79G>A (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs1557103654 | 29 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.059) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000023.11:g.49198985C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49198985C>A Locations: - p.Val29Leu (Ensembl:ENST00000263233) - c.85G>T (Ensembl:ENST00000263233) - p.Val29Leu (Ensembl:ENST00000479808) - c.85G>T (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
TCGA novel | 35 | V>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: - Somatic: No Accession: NC_000023.11:g.49197837G>T Consequence type: - Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49197837G>T Locations: - c.105C>A (NCI-TCGA:ENST00000263233) - p.V35= (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
RCV001262577 rs2065533995 | 35 | V>I | Intellectual disability, X-linked 96 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.67) Somatic: No Accession: NC_000023.11:g.49197839C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49197839C>T Locations: - p.Val35Ile (Ensembl:ENST00000263233) - c.103G>A (Ensembl:ENST00000263233) - p.Val35Ile (Ensembl:ENST00000479808) - c.103G>A (Ensembl:ENST00000479808) Disease association: - Intellectual disability, X-linked 96 (XLID96) Source type: large scale study | |||||||
rs2065533995 | 35 | V>L | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.49197839C>G Codon: GTC/CTC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49197839C>G Locations: - p.Val35Leu (Ensembl:ENST00000479808) - c.103G>C (Ensembl:ENST00000479808) - p.Val35Leu (Ensembl:ENST00000263233) - c.103G>C (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
COSV99602739 | 37 | A>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.947) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.49197832G>T Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49197832G>T Locations: - c.110C>A (NCI-TCGA:ENST00000263233) - p.A37D (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs781903947 | 37 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.808) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49197833C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49197833C>T Locations: - p.Ala37Thr (Ensembl:ENST00000479808) - c.109G>A (Ensembl:ENST00000479808) - p.Ala37Thr (Ensembl:ENST00000263233) - c.109G>A (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs782533541 | 40 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49197824C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49197824C>T Locations: - p.Ala40Thr (Ensembl:ENST00000263233) - c.118G>A (Ensembl:ENST00000263233) - p.Ala40Thr (Ensembl:ENST00000479808) - c.118G>A (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs1557103508 | 41 | F>I | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49197821A>T Codon: TTT/ATT Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49197821A>T Locations: - p.Phe41Ile (Ensembl:ENST00000479808) - c.121T>A (Ensembl:ENST00000479808) - p.Phe41Ile (Ensembl:ENST00000263233) - c.121T>A (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
RCV002265504 rs1557103508 COSV99602640 | 41 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD NCI-TCGA Cosmic cosmic curated | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.49197821A>G, NC_000023.11:g.49197819A>T Codon: TTT/CTT Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49197821A>G, NC_000023.11:g.49197819A>T Locations: - p.Phe41Leu (Ensembl:ENST00000479808) - c.121T>C (Ensembl:ENST00000479808) - p.Phe41Leu (Ensembl:ENST00000263233) - c.121T>C (Ensembl:ENST00000263233) - c.123T>A (NCI-TCGA:ENST00000263233) - p.F41L (NCI-TCGA:ENST00000263233) Source type: large scale study | |||||||
rs868921973 | 42 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.948) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49197817G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49197817G>A Locations: - p.Ala42Val (Ensembl:ENST00000263233) - c.125C>T (Ensembl:ENST00000263233) - p.Ala42Val (Ensembl:ENST00000479808) - c.125C>T (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV54296742 | 43 | T>P | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49197815T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49197815T>G Locations: - p.Thr43Pro (cosmic curated:ENST00000479808) - c.127A>C (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs782140208 | 45 | G>C | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49197809C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49197809C>A Locations: - p.Gly45Cys (Ensembl:ENST00000263233) - c.133G>T (Ensembl:ENST00000263233) - p.Gly45Cys (Ensembl:ENST00000479808) - c.133G>T (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV54296635 rs782140208 | 45 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.817) - SIFT: deleterious (0.04) - PolyPhen: possibly damaging (0.814) - SIFT: deleterious (0.03) Somatic: Yes Population frequencies: - MAF: 0.0003 (1000Genomes) Accession: NC_000023.11:g.49197809C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49197809C>T Locations: - p.G45S (NCI-TCGA:ENST00000263233) - p.G45S (NCI-TCGA:ENST00000479808) - p.Gly45Ser (Ensembl:ENST00000479808) - c.133G>A (Ensembl:ENST00000479808) - p.Gly45Ser (Ensembl:ENST00000263233) - c.133G>A (Ensembl:ENST00000263233) Source type: large scale study | |||||||
rs1197572169 | 45 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49197808C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49197808C>A Locations: - p.Gly45Val (Ensembl:ENST00000263233) - c.134G>T (Ensembl:ENST00000263233) - p.Gly45Val (Ensembl:ENST00000479808) - c.134G>T (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV54296110 | 48 | S>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49197799C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49197799C>A Locations: - p.Ser48Ile (cosmic curated:ENST00000479808) - c.143G>T (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV108088229 | 49 | G>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49197796C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49197796C>T Locations: - p.Gly49Glu (cosmic curated:ENST00000479808) - c.146G>A (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs2147884171 | 49 | G>W | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49197797C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49197797C>A Locations: - p.Gly49Trp (Ensembl:ENST00000263233) - c.145G>T (Ensembl:ENST00000263233) - p.Gly49Trp (Ensembl:ENST00000479808) - c.145G>T (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV54294324 | 50 | E>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49197793T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49197793T>C Locations: - p.Glu50Gly (cosmic curated:ENST00000479808) - c.149A>G (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
TCGA novel | 50 | E>S | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000023.11:g.49197794del Consequence type: frameshift Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49197794del Locations: - c.148del (NCI-TCGA:ENST00000263233) - p.E50Sfs*4 (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV54296889 | 55 | V>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.49197778A>C Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49197778A>C Locations: - c.164T>G (NCI-TCGA:ENST00000263233) - p.V55G (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs781949782 | 55 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.49197779C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49197779C>T Locations: - p.Val55Met (Ensembl:ENST00000263233) - c.163G>A (Ensembl:ENST00000263233) - p.Val55Met (Ensembl:ENST00000479808) - c.163G>A (Ensembl:ENST00000479808) Source type: large scale study | |||||||
COSV108088225 | 56 | D>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49197774A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49197774A>T Locations: - p.Asp56Glu (cosmic curated:ENST00000479808) - c.168T>A (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV54297261 | 56 | D>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49197775T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49197775T>A Locations: - p.Asp56Val (cosmic curated:ENST00000479808) - c.167A>T (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV54294643 | 57 | C>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49197772C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49197772C>T Locations: - p.Cys57Tyr (cosmic curated:ENST00000479808) - c.170G>A (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
RCV000010539 rs2147884161 | 59-60 | NK>K* | Intellectual disability, X-linked 96 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.49197764_49197765delinsAC Codon: AACAAG/AAGTAG Consequence type: stop gained Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49197764_49197765delinsAC Locations: - p.Asn59_Lys60delinsLysTer (Ensembl:ENST00000263233) - c.177_178delinsGT (Ensembl:ENST00000263233) - p.Asn59_Lys60delinsLysTer (Ensembl:ENST00000479808) - c.177_178delinsGT (Ensembl:ENST00000479808) Disease association: - Intellectual disability, X-linked 96 (XLID96) Source type: large scale study | |||||||
rs782053308 | 62 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000023.11:g.49197756C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49197756C>G Locations: - p.Glu62Asp (Ensembl:ENST00000479808) - c.186G>C (Ensembl:ENST00000479808) - p.Glu62Asp (Ensembl:ENST00000263233) - c.186G>C (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
COSV54295798 rs782810430 | 62 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Likely benign (Ensembl) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.15) - PolyPhen: benign (0.038) - SIFT: tolerated (0.09) Somatic: Yes Population frequencies: - MAF: 0.00003489 (gnomAD) Accession: NC_000023.11:g.49197758C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49197758C>T Locations: - p.E62K (NCI-TCGA:ENST00000263233) - p.E62K (NCI-TCGA:ENST00000479808) - p.Glu62Lys (Ensembl:ENST00000263233) - c.184G>A (Ensembl:ENST00000263233) - p.Glu62Lys (Ensembl:ENST00000479808) - c.184G>A (Ensembl:ENST00000479808) Source type: large scale study | |||||||
rs782130148 | 67 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000023.11:g.49197741G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49197741G>C Locations: - p.Ile67Met (Ensembl:ENST00000479808) - c.201C>G (Ensembl:ENST00000479808) - p.Ile67Met (Ensembl:ENST00000263233) - c.201C>G (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
COSV54294786 | 68 | E>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49197740C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49197740C>G Locations: - p.Glu68Gln (cosmic curated:ENST00000479808) - c.202G>C (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs782012520 | 69 | V>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49197736A>T Codon: GTC/GAC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49197736A>T Locations: - p.Val69Asp (Ensembl:ENST00000479808) - c.206T>A (Ensembl:ENST00000479808) - p.Val69Asp (Ensembl:ENST00000263233) - c.206T>A (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs781966037 | 70 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.73) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000023.11:g.49197733T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49197733T>C Locations: - p.Glu70Gly (Ensembl:ENST00000263233) - c.209A>G (Ensembl:ENST00000263233) - p.Glu70Gly (Ensembl:ENST00000479808) - c.209A>G (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs782111448 | 70 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.182) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000023.11:g.49197734C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49197734C>T Locations: - p.Glu70Lys (Ensembl:ENST00000479808) - c.208G>A (Ensembl:ENST00000479808) - p.Glu70Lys (Ensembl:ENST00000263233) - c.208G>A (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
COSV54296933 | 71 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000023.11:g.49197729G>T Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49197729G>T Locations: - c.213C>A (NCI-TCGA:ENST00000263233) - p.F71L (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: | |||||||
TCGA novel | 72 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.49197728C>A Consequence type: stop gained Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49197728C>A Locations: - c.214G>T (NCI-TCGA:ENST00000263233) - p.E72* (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs782337921 | 72 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.835) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000023.11:g.49197728C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49197728C>T Locations: - p.Glu72Lys (Ensembl:ENST00000263233) - c.214G>A (Ensembl:ENST00000263233) - p.Glu72Lys (Ensembl:ENST00000479808) - c.214G>A (Ensembl:ENST00000479808) Source type: large scale study | |||||||
VAR_079223 | 72 | E>Q | UniProt | ||||
Consequence: missense Somatic: No Accession: Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: Locations: - p.Glu72Gln (UniProt:P08247) Source type: uniprot Cross-references: | |||||||
COSV54295060 | 75 | F>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: - Somatic: Yes Accession: NC_000023.11:g.49197717G>A Consequence type: - Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49197717G>A Locations: - c.225C>T (NCI-TCGA:ENST00000263233) - p.F75= (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: | |||||||
COSV54295181 | 83 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (0.24) Somatic: Yes Accession: NC_000023.11:g.49194342C>T Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194342C>T Locations: - c.247G>A (NCI-TCGA:ENST00000263233) - p.D83N (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs782025908 | 84 | A>G | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.822) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49194338G>C Codon: GCA/GGA Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194338G>C Locations: - p.Ala84Gly (Ensembl:ENST00000263233) - c.251C>G (Ensembl:ENST00000263233) - p.Ala84Gly (Ensembl:ENST00000479808) - c.251C>G (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV54295533 | 86 | T>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49194332G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49194332G>C Locations: - p.Thr86Ser (cosmic curated:ENST00000479808) - c.257C>G (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV54296181 rs782397970 | 88 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.17) - PolyPhen: benign (0.003) - SIFT: tolerated (0.22) Somatic: Yes Population frequencies: - MAF: 0.00002736 (gnomAD) Accession: NC_000023.11:g.49194326C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194326C>T Locations: - p.R88Q (NCI-TCGA:ENST00000263233) - p.R88Q (NCI-TCGA:ENST00000479808) - p.Arg88Gln (Ensembl:ENST00000479808) - c.263G>A (Ensembl:ENST00000479808) - p.Arg88Gln (Ensembl:ENST00000263233) - c.263G>A (Ensembl:ENST00000263233) Source type: large scale study | |||||||
rs1557103159 | 89 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.49194323C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194323C>T Locations: - p.Gly89Glu (Ensembl:ENST00000263233) - c.266G>A (Ensembl:ENST00000263233) - p.Gly89Glu (Ensembl:ENST00000479808) - c.266G>A (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
TCGA novel | 90 | G>A | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000023.11:g.49194320del Consequence type: frameshift Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194320del Locations: - c.269del (NCI-TCGA:ENST00000263233) - p.G90Afs*7 (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs782248614 | 90 | G>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000023.11:g.49194320C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194320C>T Locations: - p.Gly90Asp (Ensembl:ENST00000263233) - c.269G>A (Ensembl:ENST00000263233) - p.Gly90Asp (Ensembl:ENST00000479808) - c.269G>A (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs782248614 | 90 | G>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000023.11:g.49194320C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194320C>A Locations: - p.Gly90Val (Ensembl:ENST00000263233) - c.269G>T (Ensembl:ENST00000263233) - p.Gly90Val (Ensembl:ENST00000479808) - c.269G>T (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
RCV000010538 rs2147882650 | 92 | T>missing | Intellectual disability, X-linked 96 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000023.11:g.49194315dup Consequence type: frameshift Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194315dup Locations: - p.Thr92fs (ClinVar:ENST00000263233) Disease association: - Intellectual disability, X-linked 96 (XLID96) Source type: large scale study Cross-references: | |||||||
TCGA novel | 93 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000023.11:g.49194310C>A Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194310C>A Locations: - c.279G>T (NCI-TCGA:ENST00000263233) - p.K93N (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2065520938 | 94 | V>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.49194309C>G Codon: GTC/CTC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194309C>G Locations: - p.Val94Leu (Ensembl:ENST00000479808) - c.280G>C (Ensembl:ENST00000479808) - p.Val94Leu (Ensembl:ENST00000263233) - c.280G>C (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
COSV54295156 | 97 | V>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49194299A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49194299A>G Locations: - p.Val97Ala (cosmic curated:ENST00000479808) - c.290T>C (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV54296291 | 97 | V>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49194300C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49194300C>T Locations: - p.Val97Ile (cosmic curated:ENST00000479808) - c.289G>A (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV54294478 | 101 | S>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49194287G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49194287G>T Locations: - p.Ser101Tyr (cosmic curated:ENST00000479808) - c.302C>A (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV99602658 COSV99603002 | 102 | S>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49194284G>T Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194284G>T Locations: - c.305C>A (NCI-TCGA:ENST00000263233) - p.S102* (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: | |||||||
COSV99602658 COSV99603002 | 102 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.49194284G>A Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194284G>A Locations: - c.305C>T (NCI-TCGA:ENST00000263233) - p.S102L (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: | |||||||
COSV107203683 | 103 | S>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49194281G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49194281G>A Locations: - p.Ser103Leu (cosmic curated:ENST00000479808) - c.308C>T (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs990186083 | 103 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49194282A>G Codon: TCA/CCA Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194282A>G Locations: - p.Ser103Pro (Ensembl:ENST00000479808) - c.307T>C (Ensembl:ENST00000479808) - p.Ser103Pro (Ensembl:ENST00000263233) - c.307T>C (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
COSV54294864 rs782248808 | 105 | E>K | cosmic curated 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.49194276C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194276C>T Locations: - p.Glu105Lys (Ensembl:ENST00000263233) - c.313G>A (Ensembl:ENST00000263233) - p.Glu105Lys (Ensembl:ENST00000479808) - c.313G>A (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV105032170 COSV54297098 | 106 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.49194271G>C, NC_000023.11:g.49194271G>T Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194271G>C, NC_000023.11:g.49194271G>T Locations: - p.Phe106Leu (cosmic curated:ENST00000479808) - c.318C>G (cosmic curated:ENST00000479808) - c.318C>A (NCI-TCGA:ENST00000263233) - p.F106L (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs2065520800 | 109 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.909) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.49194264T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194264T>C Locations: - p.Thr109Ala (Ensembl:ENST00000479808) - c.325A>G (Ensembl:ENST00000479808) - p.Thr109Ala (Ensembl:ENST00000263233) - c.325A>G (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs1323740914 | 110 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.928) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49194261C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194261C>T Locations: - p.Val110Met (Ensembl:ENST00000479808) - c.328G>A (Ensembl:ENST00000479808) - p.Val110Met (Ensembl:ENST00000263233) - c.328G>A (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
COSV54295737 | 111 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49194258C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49194258C>T Locations: - p.Ala111Thr (cosmic curated:ENST00000479808) - c.331G>A (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV54295317 rs2147882623 | 111 | A>V | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.964) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000023.11:g.49194257G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194257G>A Locations: - p.Ala111Val (Ensembl:ENST00000479808) - c.332C>T (Ensembl:ENST00000479808) - p.Ala111Val (Ensembl:ENST00000263233) - c.332C>T (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
COSV99603164 rs781872198 | 112 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000005458 (gnomAD) Accession: NC_000023.11:g.49194255C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194255C>T Locations: - p.V112M (NCI-TCGA:ENST00000263233) - p.V112M (NCI-TCGA:ENST00000479808) - p.Val112Met (Ensembl:ENST00000479808) - c.334G>A (Ensembl:ENST00000479808) - p.Val112Met (Ensembl:ENST00000263233) - c.334G>A (Ensembl:ENST00000263233) Source type: large scale study | |||||||
COSV105032181 | 116 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49194243G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49194243G>A Locations: - p.Leu116Phe (cosmic curated:ENST00000479808) - c.346C>T (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
TCGA novel | 119 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.146) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000023.11:g.49194232C>T Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194232C>T Locations: - c.357G>A (NCI-TCGA:ENST00000263233) - p.M119I (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 120 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.94) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.49194231C>T Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194231C>T Locations: - c.358G>A (NCI-TCGA:ENST00000263233) - p.G120R (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2147882612 | 122 | L>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.49194224A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194224A>T Locations: - p.Leu122Gln (Ensembl:ENST00000479808) - c.365T>A (Ensembl:ENST00000479808) - p.Leu122Gln (Ensembl:ENST00000263233) - c.365T>A (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
RCV002273106 rs782495354 | 123 | A>T | Intellectual disability, X-linked 96 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.398) - SIFT: tolerated (0.08) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000023.11:g.49194222C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194222C>T Locations: - p.Ala123Thr (Ensembl:ENST00000479808) - c.367G>A (Ensembl:ENST00000479808) - p.Ala123Thr (Ensembl:ENST00000263233) - c.367G>A (Ensembl:ENST00000263233) Disease association: - Intellectual disability, X-linked 96 (XLID96) Source type: large scale study Cross-references: | |||||||
rs1211169499 | 125 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49194215T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194215T>C Locations: - p.Tyr125Cys (Ensembl:ENST00000263233) - c.374A>G (Ensembl:ENST00000263233) - p.Tyr125Cys (Ensembl:ENST00000479808) - c.374A>G (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV54295444 | 127 | F>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49194209A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49194209A>C Locations: - p.Phe127Cys (cosmic curated:ENST00000479808) - c.380T>G (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV105032211 | 127 | F>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49194210A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49194210A>T Locations: - p.Phe127Ile (cosmic curated:ENST00000479808) - c.379T>A (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs2065520568 | 127 | F>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.49194208G>T Codon: TTC/TTA Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194208G>T Locations: - p.Phe127Leu (Ensembl:ENST00000479808) - c.381C>A (Ensembl:ENST00000479808) - p.Phe127Leu (Ensembl:ENST00000263233) - c.381C>A (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs1002146304 | 127 | F>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49194209A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194209A>G Locations: - p.Phe127Ser (Ensembl:ENST00000263233) - c.380T>C (Ensembl:ENST00000263233) - p.Phe127Ser (Ensembl:ENST00000479808) - c.380T>C (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs113917550 | 130 | N>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49194201T>G Codon: AAC/CAC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194201T>G Locations: - p.Asn130His (Ensembl:ENST00000479808) - c.388A>C (Ensembl:ENST00000479808) - p.Asn130His (Ensembl:ENST00000263233) - c.388A>C (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs2065520540 | 131 | K>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49194196C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194196C>G Locations: - p.Lys131Asn (Ensembl:ENST00000263233) - c.393G>C (Ensembl:ENST00000263233) - p.Lys131Asn (Ensembl:ENST00000479808) - c.393G>C (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
RCV001771153 rs1557103139 | 133 | R>* | Variant of uncertain significance (Ensembl) | ClinVar dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.49194192G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194192G>A Locations: - p.Arg133Ter (Ensembl:ENST00000479808) - c.397C>T (Ensembl:ENST00000479808) - p.Arg133Ter (Ensembl:ENST00000263233) - c.397C>T (Ensembl:ENST00000263233) Source type: large scale study | |||||||
COSV54297151 RCV000721082 rs782047632 | 133 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) History of neurodevelopmental disorder (ClinVar) | Likely benign (Ensembl, ClinVar, NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.838) - SIFT: deleterious (0.03) - PolyPhen: possibly damaging (0.836) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.00002186 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000023.11:g.49194191C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194191C>T Locations: - p.R133Q (NCI-TCGA:ENST00000263233) - p.R133Q (NCI-TCGA:ENST00000479808) - p.Arg133Gln (Ensembl:ENST00000263233) - c.398G>A (Ensembl:ENST00000263233) - p.Arg133Gln (Ensembl:ENST00000479808) - c.398G>A (Ensembl:ENST00000479808) Disease association: - History of neurodevelopmental disorder Source type: large scale study | |||||||
rs1182810587 | 135 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.805) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49194185T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194185T>C Locations: - p.Asn135Ser (Ensembl:ENST00000479808) - c.404A>G (Ensembl:ENST00000479808) - p.Asn135Ser (Ensembl:ENST00000263233) - c.404A>G (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
TCGA novel | 136 | N>R | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000023.11:g.49194180_49194182TGT>C Consequence type: frameshift Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194180_49194182TGT>C Locations: - c.407_409delinsG (NCI-TCGA:ENST00000263233) - p.N136Rfs*20 (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV54296063 | 138 | G>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49194176C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49194176C>T Locations: - p.Gly138Glu (cosmic curated:ENST00000479808) - c.413G>A (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV54296271 | 138 | G>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.49194177C>A Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194177C>A Locations: - c.412G>T (NCI-TCGA:ENST00000263233) - p.G138W (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: | |||||||
COSV54297171 | 139 | P>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49194173G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49194173G>T Locations: - p.Pro139His (cosmic curated:ENST00000479808) - c.416C>A (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs1557103132 | 139 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.917) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49194174G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194174G>A Locations: - p.Pro139Ser (Ensembl:ENST00000479808) - c.415C>T (Ensembl:ENST00000479808) - p.Pro139Ser (Ensembl:ENST00000263233) - c.415C>T (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs1421709251 | 140 | M>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000023.11:g.49194169C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194169C>T Locations: - p.Met140Ile (Ensembl:ENST00000263233) - c.420G>A (Ensembl:ENST00000263233) - p.Met140Ile (Ensembl:ENST00000479808) - c.420G>A (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs782799457 | 140 | M>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49194170A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194170A>G Locations: - p.Met140Thr (Ensembl:ENST00000479808) - c.419T>C (Ensembl:ENST00000479808) - p.Met140Thr (Ensembl:ENST00000263233) - c.419T>C (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs1416335783 | 140 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000023.11:g.49194171T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49194171T>C Locations: - p.Met140Val (Ensembl:ENST00000479808) - c.418A>G (Ensembl:ENST00000479808) - p.Met140Val (Ensembl:ENST00000263233) - c.418A>G (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
COSV54294150 | 142 | D>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49193462T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49193462T>C Locations: - p.Asp142Gly (cosmic curated:ENST00000479808) - c.425A>G (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs1602611129 | 143 | F>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.303) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49193460A>T Codon: TTT/ATT Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193460A>T Locations: - p.Phe143Ile (Ensembl:ENST00000263233) - c.427T>A (Ensembl:ENST00000263233) - p.Phe143Ile (Ensembl:ENST00000479808) - c.427T>A (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs1467612174 | 145 | A>V | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.49193453G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193453G>A Locations: - p.Ala145Val (Ensembl:ENST00000263233) - c.434C>T (Ensembl:ENST00000263233) - p.Ala145Val (Ensembl:ENST00000479808) - c.434C>T (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV54296834 | 146 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.49193450G>A Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193450G>A Locations: - c.437C>T (NCI-TCGA:ENST00000263233) - p.T146M (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs150152563 | 148 | V>A | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.118) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000023.11:g.49193444A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193444A>G Locations: - p.Val148Ala (Ensembl:ENST00000479808) - c.443T>C (Ensembl:ENST00000479808) - p.Val148Ala (Ensembl:ENST00000263233) - c.443T>C (Ensembl:ENST00000263233) Source type: large scale study | |||||||
COSV54294813 rs1445131623 | 150 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated (0.27) - PolyPhen: benign (0.055) - SIFT: tolerated (0.37) Somatic: Yes Population frequencies: - MAF: 0.000005539 (gnomAD) Accession: NC_000023.11:g.49193439C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193439C>T Locations: - p.A150T (NCI-TCGA:ENST00000263233) - p.A150T (NCI-TCGA:ENST00000479808) - p.Ala150Thr (Ensembl:ENST00000263233) - c.448G>A (Ensembl:ENST00000263233) - p.Ala150Thr (Ensembl:ENST00000479808) - c.448G>A (Ensembl:ENST00000479808) Source type: large scale study | |||||||
COSV54297239 rs2065517475 | 150 | A>V | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.583) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000023.11:g.49193438G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193438G>A Locations: - p.Ala150Val (Ensembl:ENST00000263233) - c.449C>T (Ensembl:ENST00000263233) - p.Ala150Val (Ensembl:ENST00000479808) - c.449C>T (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs2065517455 | 152 | M>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.639) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.49193432A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193432A>G Locations: - p.Met152Thr (Ensembl:ENST00000479808) - c.455T>C (Ensembl:ENST00000479808) - p.Met152Thr (Ensembl:ENST00000263233) - c.455T>C (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
COSV99603147 | 152 | M>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.131) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000023.11:g.49193433T>C Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193433T>C Locations: - c.454A>G (NCI-TCGA:ENST00000263233) - p.M152V (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: | |||||||
COSV99602915 rs782048191 | 155 | V>I | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000023.11:g.49193424C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193424C>T Locations: - p.Val155Ile (Ensembl:ENST00000479808) - c.463G>A (Ensembl:ENST00000479808) - p.Val155Ile (Ensembl:ENST00000263233) - c.463G>A (Ensembl:ENST00000263233) Source type: large scale study | |||||||
rs1192201087 | 156 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.901) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.49193420C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193420C>T Locations: - p.Ser156Asn (Ensembl:ENST00000479808) - c.467G>A (Ensembl:ENST00000479808) - p.Ser156Asn (Ensembl:ENST00000263233) - c.467G>A (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs902128447 | 158 | S>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.49193414G>T Codon: TCG/TAG Consequence type: stop gained Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193414G>T Locations: - p.Ser158Ter (Ensembl:ENST00000263233) - c.473C>A (Ensembl:ENST00000263233) - p.Ser158Ter (Ensembl:ENST00000479808) - c.473C>A (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
VAR_062984 COSV99603169 rs902128447 | 158 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | UniProt NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.539) - SIFT: deleterious (0.03) - PolyPhen: possibly damaging (0.534) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000023.11:g.49193414G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193414G>A Locations: - p.S158L (NCI-TCGA:ENST00000263233) - p.S158L (NCI-TCGA:ENST00000479808) - p.Ser158Leu (Ensembl:ENST00000479808) - c.473C>T (Ensembl:ENST00000479808) - p.Ser158Leu (Ensembl:ENST00000263233) - c.473C>T (Ensembl:ENST00000263233) - p.Ser158Leu (UniProt:P08247) Source type: mixed Cross-references: | |||||||
rs868956105 | 159 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49193412C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193412C>T Locations: - p.Ala159Thr (Ensembl:ENST00000263233) - c.475G>A (Ensembl:ENST00000263233) - p.Ala159Thr (Ensembl:ENST00000479808) - c.475G>A (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV54295424 | 161 | A>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.49193405G>T Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193405G>T Locations: - c.482C>A (NCI-TCGA:ENST00000263233) - p.A161D (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: | |||||||
COSV54295424 | 161 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.49193405G>A Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193405G>A Locations: - c.482C>T (NCI-TCGA:ENST00000263233) - p.A161V (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: | |||||||
TCGA novel | 164 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49193397G>T Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193397G>T Locations: - c.490C>A (NCI-TCGA:ENST00000263233) - p.L164M (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV104550455 | 165 | S>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49193393G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49193393G>A Locations: - p.Ser165Leu (cosmic curated:ENST00000479808) - c.494C>T (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
VAR_062985 | 166 | D>N | UniProt | ||||
Consequence: missense Somatic: No Accession: Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: Locations: - p.Asp166Asn (UniProt:P08247) Source type: uniprot Cross-references: | |||||||
rs1460968984 | 167 | V>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49193388C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193388C>T Locations: - p.Val167Met (Ensembl:ENST00000479808) - c.499G>A (Ensembl:ENST00000479808) - p.Val167Met (Ensembl:ENST00000263233) - c.499G>A (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
TCGA novel | 169 | M>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.49193381A>G Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193381A>G Locations: - c.506T>C (NCI-TCGA:ENST00000263233) - p.M169T (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV54296686 | 170 | A>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49193378G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49193378G>T Locations: - p.Ala170Asp (cosmic curated:ENST00000479808) - c.509C>A (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs1387775079 | 171 | T>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49193375G>C Codon: ACA/AGA Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193375G>C Locations: - p.Thr171Arg (Ensembl:ENST00000479808) - c.512C>G (Ensembl:ENST00000479808) - p.Thr171Arg (Ensembl:ENST00000263233) - c.512C>G (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
TCGA novel | 172 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49193373C>A Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193373C>A Locations: - c.514G>T (NCI-TCGA:ENST00000263233) - p.D172Y (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
CA204661 RCV000190692 rs797044879 | 174 | E>K | Inborn genetic diseases (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.904) - SIFT: tolerated (0.1) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000023.11:g.49193367C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193367C>T Locations: - p.Glu174Lys (Ensembl:ENST00000263233) - c.520G>A (Ensembl:ENST00000263233) - p.Glu174Lys (Ensembl:ENST00000479808) - c.520G>A (Ensembl:ENST00000479808) Disease association: - Inborn genetic diseases Source type: large scale study Cross-references: | |||||||
rs1318091269 | 175 | N>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.49193363T>A Codon: AAC/ATC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193363T>A Locations: - p.Asn175Ile (Ensembl:ENST00000263233) - c.524A>T (Ensembl:ENST00000263233) - p.Asn175Ile (Ensembl:ENST00000479808) - c.524A>T (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
RCV001332236 rs2065517128 | 176 | I>V | Intellectual disability, X-linked 96 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.49193361T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193361T>C Locations: - p.Ile176Val (Ensembl:ENST00000479808) - c.526A>G (Ensembl:ENST00000479808) - p.Ile176Val (Ensembl:ENST00000263233) - c.526A>G (Ensembl:ENST00000263233) Disease association: - Intellectual disability, X-linked 96 (XLID96) Source type: large scale study | |||||||
COSV54296229 | 180 | M>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49193349T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49193349T>C Locations: - p.Met180Val (cosmic curated:ENST00000479808) - c.538A>G (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV54294979 | 184 | R>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49193337G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49193337G>A Locations: - p.Arg184Cys (cosmic curated:ENST00000479808) - c.550C>T (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV54295250 rs150959416 | 184 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.13) - PolyPhen: benign (0.005) - SIFT: tolerated (0.14) Somatic: Yes Population frequencies: - MAF: 0.00001648 (gnomAD) Accession: NC_000023.11:g.49193336C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193336C>T Locations: - p.R184H (NCI-TCGA:ENST00000263233) - p.R184H (NCI-TCGA:ENST00000479808) - p.Arg184His (Ensembl:ENST00000479808) - c.551G>A (Ensembl:ENST00000479808) - p.Arg184His (Ensembl:ENST00000263233) - c.551G>A (Ensembl:ENST00000263233) Source type: large scale study | |||||||
rs150959416 | 184 | R>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.49193336C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193336C>A Locations: - p.Arg184Leu (Ensembl:ENST00000479808) - c.551G>T (Ensembl:ENST00000479808) - p.Arg184Leu (Ensembl:ENST00000263233) - c.551G>T (Ensembl:ENST00000263233) Source type: large scale study | |||||||
COSV99603022 | 184 | R>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49193337G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49193337G>T Locations: - p.Arg184Ser (cosmic curated:ENST00000479808) - c.550C>A (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV54294943 COSV54297048 | 185 | Q>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49193332C>A, NC_000023.11:g.49193332C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49193332C>A, NC_000023.11:g.49193332C>G Locations: - p.Gln185His (cosmic curated:ENST00000479808) - c.555G>T (cosmic curated:ENST00000479808) - c.555G>C (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV54295962 | 185 | Q>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49193333T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49193333T>C Locations: - p.Gln185Arg (cosmic curated:ENST00000479808) - c.554A>G (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs782197859 | 188 | N>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.49193325T>G Codon: AAC/CAC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193325T>G Locations: - p.Asn188His (Ensembl:ENST00000263233) - c.562A>C (Ensembl:ENST00000263233) - p.Asn188His (Ensembl:ENST00000479808) - c.562A>C (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs781912261 | 194 | R>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.767) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000023.11:g.49193307T>C Codon: AGA/GGA Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193307T>C Locations: - p.Arg194Gly (Ensembl:ENST00000263233) - c.580A>G (Ensembl:ENST00000263233) - p.Arg194Gly (Ensembl:ENST00000479808) - c.580A>G (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs782428065 | 194 | R>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.61) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000023.11:g.49193306C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193306C>T Locations: - p.Arg194Lys (Ensembl:ENST00000263233) - c.581G>A (Ensembl:ENST00000263233) - p.Arg194Lys (Ensembl:ENST00000479808) - c.581G>A (Ensembl:ENST00000479808) Source type: large scale study | |||||||
rs782428065 | 194 | R>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.767) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.49193306C>G Codon: AGA/ACA Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193306C>G Locations: - p.Arg194Thr (Ensembl:ENST00000263233) - c.581G>C (Ensembl:ENST00000263233) - p.Arg194Thr (Ensembl:ENST00000479808) - c.581G>C (Ensembl:ENST00000479808) Source type: large scale study | |||||||
rs1291031432 | 195 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.967) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000023.11:g.49193303T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193303T>C Locations: - p.Asp195Gly (Ensembl:ENST00000263233) - c.584A>G (Ensembl:ENST00000263233) - p.Asp195Gly (Ensembl:ENST00000479808) - c.584A>G (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
RCV001814939 rs2147882149 | 195 | D>N | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.49193304C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193304C>T Locations: - p.Asp195Asn (Ensembl:ENST00000263233) - c.583G>A (Ensembl:ENST00000263233) - p.Asp195Asn (Ensembl:ENST00000479808) - c.583G>A (Ensembl:ENST00000479808) Source type: large scale study | |||||||
rs1291031432 | 195 | D>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.49193303T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193303T>A Locations: - p.Asp195Val (Ensembl:ENST00000263233) - c.584A>T (Ensembl:ENST00000263233) - p.Asp195Val (Ensembl:ENST00000479808) - c.584A>T (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV54294532 | 195 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: tolerated (0.92) Somatic: Yes Accession: NC_000023.11:g.49193304C>A Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193304C>A Locations: - c.583G>T (NCI-TCGA:ENST00000263233) - p.D195Y (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs17855914 | 196 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49193300G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193300G>A Locations: - p.Pro196Leu (Ensembl:ENST00000263233) - c.587C>T (Ensembl:ENST00000263233) - p.Pro196Leu (Ensembl:ENST00000479808) - c.587C>T (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
CA10409756 RCV000341861 rs199590018 | 198 | T>I | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.223) - SIFT: tolerated (0.4) Somatic: No Population frequencies: - MAF: 0.00026 (ClinVar) Accession: NC_000023.11:g.49193294G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193294G>A Locations: - p.Thr198Ile (Ensembl:ENST00000263233) - c.593C>T (Ensembl:ENST00000263233) - p.Thr198Ile (Ensembl:ENST00000479808) - c.593C>T (Ensembl:ENST00000479808) Source type: large scale study | |||||||
TCGA novel | 198 | T>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.216) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.49193295T>A Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193295T>A Locations: - c.592A>T (NCI-TCGA:ENST00000263233) - p.T198S (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2065516870 | 199 | S>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49193291G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193291G>A Locations: - p.Ser199Leu (Ensembl:ENST00000479808) - c.596C>T (Ensembl:ENST00000479808) - p.Ser199Leu (Ensembl:ENST00000263233) - c.596C>T (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs1557102979 | 200 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.49193288C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193288C>T Locations: - p.Gly200Glu (Ensembl:ENST00000479808) - c.599G>A (Ensembl:ENST00000479808) - p.Gly200Glu (Ensembl:ENST00000263233) - c.599G>A (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs2065516851 | 200 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000023.11:g.49193289C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193289C>T Locations: - p.Gly200Arg (Ensembl:ENST00000263233) - c.598G>A (Ensembl:ENST00000263233) - p.Gly200Arg (Ensembl:ENST00000479808) - c.598G>A (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs1557102976 | 202 | N>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49193283T>G Codon: AAC/CAC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193283T>G Locations: - p.Asn202His (Ensembl:ENST00000479808) - c.604A>C (Ensembl:ENST00000479808) - p.Asn202His (Ensembl:ENST00000263233) - c.604A>C (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs1055004822 | 202 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.49193282T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193282T>C Locations: - p.Asn202Ser (Ensembl:ENST00000479808) - c.605A>G (Ensembl:ENST00000479808) - p.Asn202Ser (Ensembl:ENST00000263233) - c.605A>G (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
TCGA novel | 203 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.49193279G>A Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193279G>A Locations: - c.608C>T (NCI-TCGA:ENST00000263233) - p.T203I (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 203 | T>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000023.11:g.49193280T>A Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49193280T>A Locations: - c.607A>T (NCI-TCGA:ENST00000263233) - p.T203S (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV106384797 | 208 | G>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49191757C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49191757C>T Locations: - p.Gly208Ser (cosmic curated:ENST00000479808) - c.622G>A (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
RCV002244342 rs1040270887 | 209 | F>C | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000023.11:g.49191753A>C Codon: TTC/TGC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191753A>C Locations: - p.Phe209Cys (Ensembl:ENST00000263233) - c.626T>G (Ensembl:ENST00000263233) - p.Phe209Cys (Ensembl:ENST00000479808) - c.626T>G (Ensembl:ENST00000479808) Source type: large scale study | |||||||
rs944515766 | 210 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.502) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000023.11:g.49191751G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191751G>C Locations: - p.Leu210Val (Ensembl:ENST00000479808) - c.628C>G (Ensembl:ENST00000479808) - p.Leu210Val (Ensembl:ENST00000263233) - c.628C>G (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
TCGA novel | 212 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.959) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.49191745G>T Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191745G>T Locations: - c.634C>A (NCI-TCGA:ENST00000263233) - p.L212M (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1557102782 | 212 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49191744A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191744A>G Locations: - p.Leu212Pro (Ensembl:ENST00000479808) - c.635T>C (Ensembl:ENST00000479808) - p.Leu212Pro (Ensembl:ENST00000263233) - c.635T>C (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs1278446763 | 212 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.294) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000023.11:g.49191745G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191745G>C Locations: - p.Leu212Val (Ensembl:ENST00000479808) - c.634C>G (Ensembl:ENST00000479808) - p.Leu212Val (Ensembl:ENST00000263233) - c.634C>G (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
COSV54294107 rs1557102780 | 213 | V>L | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.293) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000023.11:g.49191742C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191742C>A Locations: - p.Val213Leu (Ensembl:ENST00000263233) - c.637G>T (Ensembl:ENST00000263233) - p.Val213Leu (Ensembl:ENST00000479808) - c.637G>T (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs1602610137 | 217 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49191729C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191729C>T Locations: - p.Gly217Asp (Ensembl:ENST00000263233) - c.650G>A (Ensembl:ENST00000263233) - p.Gly217Asp (Ensembl:ENST00000479808) - c.650G>A (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
VAR_062986 CA120798 RCV000010541 rs137852561 | 217 | G>R | XLID96 (UniProt) Intellectual disability, X-linked 96 (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000023.11:g.49191730C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191730C>G Locations: - p.Gly217Arg (UniProt:P08247) Disease association: - Intellectual disability, X-linked 96 (XLID96) - Intellectual developmental disorder, X-linked 96 (XLID96) Source type: mixed | |||||||
rs137852561 | 217 | G>S | Pathogenic (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49191730C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191730C>T Locations: - p.Gly217Ser (Ensembl:ENST00000479808) - c.649G>A (Ensembl:ENST00000479808) - p.Gly217Ser (Ensembl:ENST00000263233) - c.649G>A (Ensembl:ENST00000263233) Source type: large scale study | |||||||
rs2065510150 | 222 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.61) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.49191714A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191714A>G Locations: - p.Val222Ala (Ensembl:ENST00000263233) - c.665T>C (Ensembl:ENST00000263233) - p.Val222Ala (Ensembl:ENST00000479808) - c.665T>C (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV54294597 | 222 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.452) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000023.11:g.49191715C>T Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191715C>T Locations: - c.664G>A (NCI-TCGA:ENST00000263233) - p.V222M (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs1557102772 | 225 | E>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49191706C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191706C>G Locations: - p.Glu225Gln (Ensembl:ENST00000479808) - c.673G>C (Ensembl:ENST00000479808) - p.Glu225Gln (Ensembl:ENST00000263233) - c.673G>C (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs1557102770 | 226 | T>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49191702G>T Codon: ACA/AAA Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191702G>T Locations: - p.Thr226Lys (Ensembl:ENST00000263233) - c.677C>A (Ensembl:ENST00000263233) - p.Thr226Lys (Ensembl:ENST00000479808) - c.677C>A (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs1557102770 | 226 | T>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49191702G>C Codon: ACA/AGA Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191702G>C Locations: - p.Thr226Arg (Ensembl:ENST00000479808) - c.677C>G (Ensembl:ENST00000479808) - p.Thr226Arg (Ensembl:ENST00000263233) - c.677C>G (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs1557102767 | 227 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49191699C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191699C>T Locations: - p.Gly227Asp (Ensembl:ENST00000479808) - c.680G>A (Ensembl:ENST00000479808) - p.Gly227Asp (Ensembl:ENST00000263233) - c.680G>A (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
RCV002274379 rs2147881303 | 228 | W>* | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.49191695C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191695C>T Locations: - p.Trp228Ter (Ensembl:ENST00000479808) - c.684G>A (Ensembl:ENST00000479808) - p.Trp228Ter (Ensembl:ENST00000263233) - c.684G>A (Ensembl:ENST00000263233) Source type: large scale study | |||||||
COSV99603197 | 228 | W>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49191695C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49191695C>A Locations: - p.Trp228Cys (cosmic curated:ENST00000479808) - c.684G>T (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs782207350 | 229 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000023.11:g.49191694C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191694C>G Locations: - p.Ala229Pro (Ensembl:ENST00000263233) - c.685G>C (Ensembl:ENST00000263233) - p.Ala229Pro (Ensembl:ENST00000479808) - c.685G>C (Ensembl:ENST00000479808) Source type: large scale study | |||||||
rs782207350 | 229 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000023.11:g.49191694C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191694C>A Locations: - p.Ala229Ser (Ensembl:ENST00000479808) - c.685G>T (Ensembl:ENST00000479808) - p.Ala229Ser (Ensembl:ENST00000263233) - c.685G>T (Ensembl:ENST00000263233) Source type: large scale study | |||||||
rs782207350 | 229 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000023.11:g.49191694C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191694C>T Locations: - p.Ala229Thr (Ensembl:ENST00000263233) - c.685G>A (Ensembl:ENST00000263233) - p.Ala229Thr (Ensembl:ENST00000479808) - c.685G>A (Ensembl:ENST00000479808) Source type: large scale study | |||||||
COSV54295292 rs782424574 | 230 | A>S | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.164) - SIFT: tolerated (0.27) Somatic: Yes Accession: NC_000023.11:g.49191691C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191691C>A Locations: - p.Ala230Ser (Ensembl:ENST00000479808) - c.688G>T (Ensembl:ENST00000479808) - p.Ala230Ser (Ensembl:ENST00000263233) - c.688G>T (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs782424574 | 230 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.632) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000023.11:g.49191691C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191691C>T Locations: - p.Ala230Thr (Ensembl:ENST00000479808) - c.688G>A (Ensembl:ENST00000479808) - p.Ala230Thr (Ensembl:ENST00000263233) - c.688G>A (Ensembl:ENST00000263233) Source type: large scale study | |||||||
rs782277431 | 230 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.822) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.49191690G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191690G>A Locations: - p.Ala230Val (Ensembl:ENST00000479808) - c.689C>T (Ensembl:ENST00000479808) - p.Ala230Val (Ensembl:ENST00000263233) - c.689C>T (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs1396113897 | 231 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.457) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000023.11:g.49191687G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191687G>A Locations: - p.Pro231Leu (Ensembl:ENST00000479808) - c.692C>T (Ensembl:ENST00000479808) - p.Pro231Leu (Ensembl:ENST00000263233) - c.692C>T (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
COSV54295595 | 231 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49191688G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49191688G>A Locations: - p.Pro231Ser (cosmic curated:ENST00000479808) - c.691C>T (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs781818986 | 233 | L>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.209) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.49191681A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191681A>T Locations: - p.Leu233Gln (Ensembl:ENST00000263233) - c.698T>A (Ensembl:ENST00000263233) - p.Leu233Gln (Ensembl:ENST00000479808) - c.698T>A (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs1557102759 | 234 | R>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.405) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.49191678C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191678C>T Locations: - p.Arg234His (Ensembl:ENST00000263233) - c.701G>A (Ensembl:ENST00000263233) - p.Arg234His (Ensembl:ENST00000479808) - c.701G>A (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs782484176 | 235 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000023.11:g.49191676C>A Codon: GCG/TCG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191676C>A Locations: - p.Ala235Ser (Ensembl:ENST00000479808) - c.703G>T (Ensembl:ENST00000479808) - p.Ala235Ser (Ensembl:ENST00000263233) - c.703G>T (Ensembl:ENST00000263233) Source type: large scale study | |||||||
rs782484176 | 235 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000023.11:g.49191676C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191676C>T Locations: - p.Ala235Thr (Ensembl:ENST00000263233) - c.703G>A (Ensembl:ENST00000263233) - p.Ala235Thr (Ensembl:ENST00000479808) - c.703G>A (Ensembl:ENST00000479808) Source type: large scale study | |||||||
rs2065509698 | 238 | G>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.167) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000023.11:g.49191666C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191666C>T Locations: - p.Gly238Asp (Ensembl:ENST00000263233) - c.713G>A (Ensembl:ENST00000263233) - p.Gly238Asp (Ensembl:ENST00000479808) - c.713G>A (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs1462126066 | 238 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.406) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000023.11:g.49191667C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191667C>G Locations: - p.Gly238Arg (Ensembl:ENST00000263233) - c.712G>C (Ensembl:ENST00000263233) - p.Gly238Arg (Ensembl:ENST00000479808) - c.712G>C (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs1462126066 | 238 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: tolerated (0.82) Somatic: No Accession: NC_000023.11:g.49191667C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191667C>T Locations: - p.Gly238Ser (Ensembl:ENST00000263233) - c.712G>A (Ensembl:ENST00000263233) - p.Gly238Ser (Ensembl:ENST00000479808) - c.712G>A (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs782790217 | 239 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.148) - SIFT: tolerated (0.72) - PolyPhen: benign (0.103) - SIFT: tolerated (0.35) Somatic: No Population frequencies: - MAF: 0.00001287 (gnomAD) Accession: NC_000023.11:g.49191664C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191664C>T Locations: - p.A239T (NCI-TCGA:ENST00000263233) - p.A239T (NCI-TCGA:ENST00000479808) - p.Ala239Thr (Ensembl:ENST00000479808) - c.715G>A (Ensembl:ENST00000479808) - p.Ala239Thr (Ensembl:ENST00000263233) - c.715G>A (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
COSV99603036 rs2147881242 | 240 | P>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.62) - SIFT: tolerated (0.12) - PolyPhen: benign (0.41) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000023.11:g.49191660G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191660G>T Locations: - p.P240H (NCI-TCGA:ENST00000263233) - p.P240H (NCI-TCGA:ENST00000479808) - p.Pro240His (Ensembl:ENST00000263233) - c.719C>A (Ensembl:ENST00000263233) - p.Pro240His (Ensembl:ENST00000479808) - c.719C>A (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV54294295 | 240 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49191661G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49191661G>A Locations: - p.Pro240Ser (cosmic curated:ENST00000479808) - c.718C>T (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
TCGA novel | 241 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.49191656C>A Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191656C>A Locations: - c.723G>T (NCI-TCGA:ENST00000263233) - p.E241D (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs782125225 | 243 | Q>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000023.11:g.49191652G>T Codon: CAA/AAA Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191652G>T Locations: - p.Gln243Lys (Ensembl:ENST00000479808) - c.727C>A (Ensembl:ENST00000479808) - p.Gln243Lys (Ensembl:ENST00000263233) - c.727C>A (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs2065509605 | 244 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.123) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.49191648G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191648G>A Locations: - p.Pro244Leu (Ensembl:ENST00000263233) - c.731C>T (Ensembl:ENST00000263233) - p.Pro244Leu (Ensembl:ENST00000479808) - c.731C>T (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
TCGA novel | 245 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000023.11:g.49191646C>T Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191646C>T Locations: - c.733G>A (NCI-TCGA:ENST00000263233) - p.A245T (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1557102748 | 246 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000023.11:g.49191643G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191643G>A Locations: - p.Pro246Ser (Ensembl:ENST00000479808) - c.736C>T (Ensembl:ENST00000479808) - p.Pro246Ser (Ensembl:ENST00000263233) - c.736C>T (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
COSV99603105 COSV99603186 rs782765401 | 247 | G>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: tolerated (0.18) - PolyPhen: benign (0.051) - SIFT: tolerated (0.13) Somatic: Yes Accession: NC_000023.11:g.49191640C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191640C>A Locations: - p.G247W (NCI-TCGA:ENST00000263233) - p.G247W (NCI-TCGA:ENST00000479808) - p.Gly247Trp (Ensembl:ENST00000263233) - c.739G>T (Ensembl:ENST00000263233) - p.Gly247Trp (Ensembl:ENST00000479808) - c.739G>T (Ensembl:ENST00000479808) Source type: large scale study | |||||||
VAR_062987 rs782086106 | 248 | D>N | UniProt ExAC dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000023.11:g.49191637C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191637C>T Locations: - p.Asp248Asn (UniProt:P08247) Source type: mixed | |||||||
COSV99602954 rs1326473243 | 249 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.34) - PolyPhen: unknown (0) - SIFT: tolerated (0.39) Somatic: Yes Population frequencies: - MAF: 0.00001819 (gnomAD) Accession: NC_000023.11:g.49191634C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191634C>T Locations: - p.A249T (NCI-TCGA:ENST00000263233) - p.A249T (NCI-TCGA:ENST00000479808) - p.Ala249Thr (Ensembl:ENST00000479808) - c.745G>A (Ensembl:ENST00000479808) - p.Ala249Thr (Ensembl:ENST00000263233) - c.745G>A (Ensembl:ENST00000263233) Source type: large scale study | |||||||
COSV54294740 rs2065509490 | 249 | A>V | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000023.11:g.49191633G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191633G>A Locations: - p.Ala249Val (Ensembl:ENST00000263233) - c.746C>T (Ensembl:ENST00000263233) - p.Ala249Val (Ensembl:ENST00000479808) - c.746C>T (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
TCGA novel | 250 | Y>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000023.11:g.49191630T>A Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191630T>A Locations: - c.749A>T (NCI-TCGA:ENST00000263233) - p.Y250F (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV99602716 | 251 | G>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49191628C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49191628C>A Locations: - p.Gly251Cys (cosmic curated:ENST00000479808) - c.751G>T (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs1372993328 | 251 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.49191627C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191627C>T Locations: - p.Gly251Asp (Ensembl:ENST00000479808) - c.752G>A (Ensembl:ENST00000479808) - p.Gly251Asp (Ensembl:ENST00000263233) - c.752G>A (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs1557102744 | 251 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000023.11:g.49191628C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191628C>T Locations: - p.Gly251Ser (Ensembl:ENST00000479808) - c.751G>A (Ensembl:ENST00000479808) - p.Gly251Ser (Ensembl:ENST00000263233) - c.751G>A (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs781945050 | 252 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.49191625C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191625C>T Locations: - p.Asp252Asn (Ensembl:ENST00000479808) - c.754G>A (Ensembl:ENST00000479808) - p.Asp252Asn (Ensembl:ENST00000263233) - c.754G>A (Ensembl:ENST00000263233) Source type: large scale study | |||||||
rs961525473 | 254 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.49191618C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191618C>T Locations: - p.Gly254Asp (Ensembl:ENST00000263233) - c.761G>A (Ensembl:ENST00000263233) - p.Gly254Asp (Ensembl:ENST00000479808) - c.761G>A (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs782023490 | 256 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000023.11:g.49191613C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191613C>T Locations: - p.Gly256Arg (Ensembl:ENST00000263233) - c.766G>A (Ensembl:ENST00000263233) - p.Gly256Arg (Ensembl:ENST00000479808) - c.766G>A (Ensembl:ENST00000479808) Source type: large scale study | |||||||
rs2065509269 | 259 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.49191603G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191603G>A Locations: - p.Pro259Leu (Ensembl:ENST00000263233) - c.776C>T (Ensembl:ENST00000263233) - p.Pro259Leu (Ensembl:ENST00000479808) - c.776C>T (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs782223076 | 260 | G>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000023.11:g.49191600C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191600C>T Locations: - p.Gly260Asp (Ensembl:ENST00000263233) - c.779G>A (Ensembl:ENST00000263233) - p.Gly260Asp (Ensembl:ENST00000479808) - c.779G>A (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV108088234 rs1557102739 | 260 | G>S | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.49) Somatic: Yes Accession: NC_000023.11:g.49191601C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191601C>T Locations: - p.Gly260Ser (Ensembl:ENST00000479808) - c.778G>A (Ensembl:ENST00000479808) - p.Gly260Ser (Ensembl:ENST00000263233) - c.778G>A (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs782324515 | 261 | G>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000023.11:g.49191597C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191597C>G Locations: - p.Gly261Ala (Ensembl:ENST00000263233) - c.782G>C (Ensembl:ENST00000263233) - p.Gly261Ala (Ensembl:ENST00000479808) - c.782G>C (Ensembl:ENST00000479808) Source type: large scale study | |||||||
rs782324515 | 261 | G>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000023.11:g.49191597C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191597C>T Locations: - p.Gly261Glu (Ensembl:ENST00000479808) - c.782G>A (Ensembl:ENST00000479808) - p.Gly261Glu (Ensembl:ENST00000263233) - c.782G>A (Ensembl:ENST00000263233) Source type: large scale study | |||||||
rs782591712 | 261 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.537) - SIFT: tolerated (0.09) - PolyPhen: unknown (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000023.11:g.49191598C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191598C>T Locations: - p.G261R (NCI-TCGA:ENST00000263233) - p.G261R (NCI-TCGA:ENST00000479808) - p.Gly261Arg (Ensembl:ENST00000479808) - c.781G>A (Ensembl:ENST00000479808) - p.Gly261Arg (Ensembl:ENST00000263233) - c.781G>A (Ensembl:ENST00000263233) Source type: large scale study | |||||||
COSV54296346 | 262 | Y>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49191595A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49191595A>C Locations: - p.Tyr262Asp (cosmic curated:ENST00000479808) - c.784T>G (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs782174651 | 262 | Y>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.49191595A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191595A>G Locations: - p.Tyr262His (Ensembl:ENST00000263233) - c.784T>C (Ensembl:ENST00000263233) - p.Tyr262His (Ensembl:ENST00000479808) - c.784T>C (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs782530398 | 264 | P>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.49191588G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191588G>T Locations: - p.Pro264His (Ensembl:ENST00000479808) - c.791C>A (Ensembl:ENST00000479808) - p.Pro264His (Ensembl:ENST00000263233) - c.791C>A (Ensembl:ENST00000263233) Source type: large scale study | |||||||
rs782677031 | 264 | P>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000023.11:g.49191589G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191589G>T Locations: - p.Pro264Thr (Ensembl:ENST00000263233) - c.790C>A (Ensembl:ENST00000263233) - p.Pro264Thr (Ensembl:ENST00000479808) - c.790C>A (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV108088240 | 265 | Q>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49191584C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49191584C>A Locations: - p.Gln265His (cosmic curated:ENST00000479808) - c.795G>T (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs200322025 | 267 | S>F | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000023.11:g.49191579G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191579G>A Locations: - p.Ser267Phe (Ensembl:ENST00000263233) - c.800C>T (Ensembl:ENST00000263233) - p.Ser267Phe (Ensembl:ENST00000479808) - c.800C>T (Ensembl:ENST00000479808) Source type: large scale study | |||||||
rs782630975 | 269 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49191574C>T, NC_000023.11:g.49191574C>G Codon: GGG/AGG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191574C>T, NC_000023.11:g.49191574C>G Locations: - p.Gly269Arg (Ensembl:ENST00000479808) - c.805G>A (Ensembl:ENST00000479808) - p.Gly269Arg (Ensembl:ENST00000263233) - c.805G>A (Ensembl:ENST00000263233) - c.805G>C (Ensembl:ENST00000479808) - c.805G>C (Ensembl:ENST00000263233) Source type: large scale study | |||||||
rs1184757384 | 271 | Q>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.49191567T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191567T>G Locations: - p.Gln271Pro (Ensembl:ENST00000263233) - c.812A>C (Ensembl:ENST00000263233) - p.Gln271Pro (Ensembl:ENST00000479808) - c.812A>C (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs2065508970 | 272 | G>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49191564C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191564C>T Locations: - p.Gly272Asp (Ensembl:ENST00000479808) - c.815G>A (Ensembl:ENST00000479808) - p.Gly272Asp (Ensembl:ENST00000263233) - c.815G>A (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs2065508907 | 276 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49191552G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191552G>A Locations: - p.Pro276Leu (Ensembl:ENST00000479808) - c.827C>T (Ensembl:ENST00000479808) - p.Pro276Leu (Ensembl:ENST00000263233) - c.827C>T (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
RCV001268749 RCV002274175 rs2065508863 | 277 | D>missing | Intellectual disability, X-linked 96 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000023.11:g.49191549_49191552del Consequence type: frameshift Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191549_49191552del Locations: - p.Asp277fs (ClinVar:ENST00000263233) Disease association: - Intellectual disability, X-linked 96 (XLID96) Source type: large scale study | |||||||
VAR_062988 rs2065508881 | 277 | D>E | XLID96; uncertain significance (UniProt) | Variant of uncertain significance (UniProt) | UniProt TOPMed | ||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000023.11:g.49191548G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191548G>T Locations: - p.Asp277Glu (Ensembl:ENST00000479808) - c.831C>A (Ensembl:ENST00000479808) - p.Asp277Glu (Ensembl:ENST00000263233) - c.831C>A (Ensembl:ENST00000263233) - p.Asp277Glu (UniProt:P08247) Disease association: - Intellectual developmental disorder, X-linked 96 (XLID96) Source type: mixed Cross-references: | |||||||
rs781828174 | 280 | Q>K | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.49191541G>T Codon: CAA/AAA Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191541G>T Locations: - p.Gln280Lys (Ensembl:ENST00000479808) - c.838C>A (Ensembl:ENST00000479808) - p.Gln280Lys (Ensembl:ENST00000263233) - c.838C>A (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs781783464 | 282 | A>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000023.11:g.49191535C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191535C>A Locations: - p.Ala282Ser (Ensembl:ENST00000263233) - c.844G>T (Ensembl:ENST00000263233) - p.Ala282Ser (Ensembl:ENST00000479808) - c.844G>T (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs782821141 | 284 | S>N | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000023.11:g.49191528C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191528C>T Locations: - p.Ser284Asn (Ensembl:ENST00000263233) - c.851G>A (Ensembl:ENST00000263233) - p.Ser284Asn (Ensembl:ENST00000479808) - c.851G>A (Ensembl:ENST00000479808) Source type: large scale study | |||||||
rs1557102721 | 284 | S>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000023.11:g.49191529T>G Codon: AGC/CGC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191529T>G Locations: - p.Ser284Arg (Ensembl:ENST00000263233) - c.850A>C (Ensembl:ENST00000263233) - p.Ser284Arg (Ensembl:ENST00000479808) - c.850A>C (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
TCGA novel | 285 | G>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000023.11:g.49191525C>G Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191525C>G Locations: - c.854G>C (NCI-TCGA:ENST00000263233) - p.G285A (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV106384787 rs782138862 | 285 | G>S | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.45) Somatic: Yes Accession: NC_000023.11:g.49191526C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191526C>T Locations: - p.Gly285Ser (Ensembl:ENST00000263233) - c.853G>A (Ensembl:ENST00000263233) - p.Gly285Ser (Ensembl:ENST00000479808) - c.853G>A (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
TCGA novel | 286 | G>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.174) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000023.11:g.49191523C>A Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191523C>A Locations: - c.856G>T (NCI-TCGA:ENST00000263233) - p.G286C (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2147881126 | 286 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000023.11:g.49191523C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191523C>T Locations: - p.Gly286Ser (Ensembl:ENST00000479808) - c.856G>A (Ensembl:ENST00000479808) - p.Gly286Ser (Ensembl:ENST00000263233) - c.856G>A (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs1370891742 | 287 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000023.11:g.49191519C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191519C>T Locations: - p.Ser287Asn (Ensembl:ENST00000479808) - c.860G>A (Ensembl:ENST00000479808) - p.Ser287Asn (Ensembl:ENST00000263233) - c.860G>A (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
COSV105839523 | 287 | S>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49191519C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49191519C>G Locations: - p.Ser287Thr (cosmic curated:ENST00000479808) - c.860G>C (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV54297007 rs1557102713 | 288 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.14) - PolyPhen: unknown (0) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000023.11:g.49191516C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191516C>T Locations: - p.G288D (NCI-TCGA:ENST00000263233) - p.G288D (NCI-TCGA:ENST00000479808) - p.Gly288Asp (Ensembl:ENST00000479808) - c.863G>A (Ensembl:ENST00000479808) - p.Gly288Asp (Ensembl:ENST00000263233) - c.863G>A (Ensembl:ENST00000263233) Source type: large scale study | |||||||
rs1557102718 | 288 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.47) - PolyPhen: unknown (0) - SIFT: tolerated (0.23) Somatic: No Population frequencies: - MAF: 0.000005628 (gnomAD) Accession: NC_000023.11:g.49191517C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191517C>T Locations: - p.G288S (NCI-TCGA:ENST00000263233) - p.G288S (NCI-TCGA:ENST00000479808) - p.Gly288Ser (Ensembl:ENST00000479808) - c.862G>A (Ensembl:ENST00000479808) - p.Gly288Ser (Ensembl:ENST00000263233) - c.862G>A (Ensembl:ENST00000263233) Source type: large scale study | |||||||
rs2065508601 | 289 | Y>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000023.11:g.49191514A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191514A>G Locations: - p.Tyr289His (Ensembl:ENST00000479808) - c.865T>C (Ensembl:ENST00000479808) - p.Tyr289His (Ensembl:ENST00000263233) - c.865T>C (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
CA155644 RCV000118572 rs587780477 | 290 | G>E | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.49191510C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191510C>T Locations: - p.Gly290Glu (Ensembl:ENST00000263233) - c.869G>A (Ensembl:ENST00000263233) - p.Gly290Glu (Ensembl:ENST00000479808) - c.869G>A (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV54294262 rs376222680 | 290 | G>R | Variant of uncertain significance (Ensembl) | cosmic curated ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000023.11:g.49191511C>T, NC_000023.11:g.49191511C>G Codon: GGG/AGG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191511C>T, NC_000023.11:g.49191511C>G Locations: - p.Gly290Arg (Ensembl:ENST00000263233) - c.868G>A (Ensembl:ENST00000263233) - p.Gly290Arg (Ensembl:ENST00000479808) - c.868G>A (Ensembl:ENST00000479808) - c.868G>C (Ensembl:ENST00000479808) - c.868G>C (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs587780477 | 290 | G>V | Likely benign (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000023.11:g.49191510C>A Codon: GGG/GTG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191510C>A Locations: - p.Gly290Val (Ensembl:ENST00000479808) - c.869G>T (Ensembl:ENST00000479808) - p.Gly290Val (Ensembl:ENST00000263233) - c.869G>T (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
CA10409701 RCV000238600 RCV002518518 RCV003437034 rs376222680 | 290 | G>W | Inborn genetic diseases (ClinVar) | Likely benign (ClinVar) | ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.00026 (ClinVar) Accession: NC_000023.11:g.49191511C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191511C>A Locations: - p.Gly290Trp (Ensembl:ENST00000479808) - c.868G>T (Ensembl:ENST00000479808) - p.Gly290Trp (Ensembl:ENST00000263233) - c.868G>T (Ensembl:ENST00000263233) Disease association: - Inborn genetic diseases Source type: large scale study | |||||||
rs781912622 | 291 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000023.11:g.49191508G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191508G>A Locations: - p.Pro291Ser (Ensembl:ENST00000479808) - c.871C>T (Ensembl:ENST00000479808) - p.Pro291Ser (Ensembl:ENST00000263233) - c.871C>T (Ensembl:ENST00000263233) Source type: large scale study | |||||||
rs782278834 | 293 | G>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000023.11:g.49191501C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191501C>G Locations: - p.Gly293Ala (Ensembl:ENST00000263233) - c.878G>C (Ensembl:ENST00000263233) - p.Gly293Ala (Ensembl:ENST00000479808) - c.878G>C (Ensembl:ENST00000479808) Source type: large scale study | |||||||
VAR_062989 CA10409699 RCV000721022 RCV000964094 RCV001821129 rs139475570 | 293 | G>S | XLID96; uncertain significance (UniProt) History of neurodevelopmental disorder (ClinVar) | Benign (Ensembl, ClinVar) | UniProt ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00026 (ClinVar) Accession: NC_000023.11:g.49191502C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191502C>T Locations: - p.Gly293Ser (UniProt:P08247) Disease association: - History of neurodevelopmental disorder - Intellectual developmental disorder, X-linked 96 (XLID96) Source type: mixed | |||||||
rs147778213 | 294 | D>E | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.64) Somatic: No Accession: NC_000023.11:g.49191497G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191497G>C Locations: - p.Asp294Glu (Ensembl:ENST00000263233) - c.882C>G (Ensembl:ENST00000263233) - p.Asp294Glu (Ensembl:ENST00000479808) - c.882C>G (Ensembl:ENST00000479808) Source type: large scale study | |||||||
COSV54296654 rs925721744 | 295 | Y>H | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000023.11:g.49191496A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191496A>G Locations: - p.Tyr295His (Ensembl:ENST00000263233) - c.883T>C (Ensembl:ENST00000263233) - p.Tyr295His (Ensembl:ENST00000479808) - c.883T>C (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs1557102705 | 295 | Y>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.49191495T>G Codon: TAT/TCT Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191495T>G Locations: - p.Tyr295Ser (Ensembl:ENST00000479808) - c.884A>C (Ensembl:ENST00000479808) - p.Tyr295Ser (Ensembl:ENST00000263233) - c.884A>C (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
TCGA novel | 296 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.109) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000023.11:g.49191492C>T Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191492C>T Locations: - c.887G>A (NCI-TCGA:ENST00000263233) - p.G296E (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
RCV001754633 rs2147881081 | 296 | G>R | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.49191493C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191493C>T Locations: - p.Gly296Arg (Ensembl:ENST00000263233) - c.886G>A (Ensembl:ENST00000263233) - p.Gly296Arg (Ensembl:ENST00000479808) - c.886G>A (Ensembl:ENST00000479808) Source type: large scale study | |||||||
rs782599081 | 298 | Q>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000023.11:g.49191485T>A Codon: CAA/CAT Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191485T>A Locations: - p.Gln298His (Ensembl:ENST00000479808) - c.894A>T (Ensembl:ENST00000479808) - p.Gln298His (Ensembl:ENST00000263233) - c.894A>T (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs1557102700 | 299 | G>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000023.11:g.49191483C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191483C>G Locations: - p.Gly299Ala (Ensembl:ENST00000479808) - c.896G>C (Ensembl:ENST00000479808) - p.Gly299Ala (Ensembl:ENST00000263233) - c.896G>C (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
TCGA novel | 299 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000023.11:g.49191483C>T Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191483C>T Locations: - c.896G>A (NCI-TCGA:ENST00000263233) - p.G299D (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 299 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.834) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000023.11:g.49191483C>A Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191483C>A Locations: - c.896G>T (NCI-TCGA:ENST00000263233) - p.G299V (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
RCV002269730 rs373273506 | 301 | G>D | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.18) Somatic: No Population frequencies: - MAF: 0.00004 (ClinVar) Accession: NC_000023.11:g.49191477C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191477C>T Locations: - p.Gly301Asp (Ensembl:ENST00000263233) - c.902G>A (Ensembl:ENST00000263233) - p.Gly301Asp (Ensembl:ENST00000479808) - c.902G>A (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs782467172 | 301 | G>R | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000023.11:g.49191478C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191478C>G Locations: - p.Gly301Arg (Ensembl:ENST00000263233) - c.901G>C (Ensembl:ENST00000263233) - p.Gly301Arg (Ensembl:ENST00000479808) - c.901G>C (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV105032219 | 301 | G>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49191478C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49191478C>T Locations: - p.Gly301Ser (cosmic curated:ENST00000479808) - c.901G>A (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs144194674 | 302 | P>A | ESP | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000023.11:g.49191475G>C Codon: CCG/GCG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191475G>C Locations: - p.Pro302Ala (Ensembl:ENST00000263233) - c.904C>G (Ensembl:ENST00000263233) - p.Pro302Ala (Ensembl:ENST00000479808) - c.904C>G (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs2065508205 | 302 | P>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.49191474G>T Codon: CCG/CAG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191474G>T Locations: - p.Pro302Gln (Ensembl:ENST00000263233) - c.905C>A (Ensembl:ENST00000263233) - p.Pro302Gln (Ensembl:ENST00000479808) - c.905C>A (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs782176511 | 303 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.49191472G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191472G>A Locations: - p.Gln303Ter (Ensembl:ENST00000479808) - c.907C>T (Ensembl:ENST00000479808) - p.Gln303Ter (Ensembl:ENST00000263233) - c.907C>T (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
COSV99602916 | 303 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000023.11:g.49191470C>G Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191470C>G Locations: - c.909G>C (NCI-TCGA:ENST00000263233) - p.Q303H (NCI-TCGA:ENST00000263233) Source type: large scale study Cross-references: | |||||||
COSV54296601 | 304 | G>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49191469C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49191469C>A Locations: - p.Gly304Cys (cosmic curated:ENST00000479808) - c.910G>T (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
COSV54297136 rs782535583 | 305 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: deleterious (0.02) - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: Yes Population frequencies: - MAF: 0.00000563 (gnomAD) Accession: NC_000023.11:g.49191466C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191466C>T Locations: - p.A305T (NCI-TCGA:ENST00000263233) - p.A305T (NCI-TCGA:ENST00000479808) - p.Ala305Thr (Ensembl:ENST00000479808) - c.913G>A (Ensembl:ENST00000479808) - p.Ala305Thr (Ensembl:ENST00000263233) - c.913G>A (Ensembl:ENST00000263233) Source type: large scale study | |||||||
rs1557102693 | 305 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000023.11:g.49191465G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191465G>A Locations: - p.Ala305Val (Ensembl:ENST00000263233) - c.914C>T (Ensembl:ENST00000263233) - p.Ala305Val (Ensembl:ENST00000479808) - c.914C>T (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs1218095990 | 307 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000023.11:g.49191459G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191459G>A Locations: - p.Thr307Ile (Ensembl:ENST00000479808) - c.920C>T (Ensembl:ENST00000479808) - p.Thr307Ile (Ensembl:ENST00000263233) - c.920C>T (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
rs1218095990 | 307 | T>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49191459G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191459G>T Locations: - p.Thr307Asn (Ensembl:ENST00000479808) - c.920C>A (Ensembl:ENST00000479808) - p.Thr307Asn (Ensembl:ENST00000263233) - c.920C>A (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
COSV54295122 | 307 | T>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49191460T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49191460T>A Locations: - p.Thr307Ser (cosmic curated:ENST00000479808) - c.919A>T (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs2065508002 | 309 | F>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.49191454A>C Codon: TTC/GTC Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191454A>C Locations: - p.Phe309Val (Ensembl:ENST00000479808) - c.925T>G (Ensembl:ENST00000479808) - p.Phe309Val (Ensembl:ENST00000263233) - c.925T>G (Ensembl:ENST00000263233) Source type: large scale study Cross-references: | |||||||
COSV99602912 | 311 | N>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.49191446A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000023.11:g.49191446A>T Locations: - p.Asn311Lys (cosmic curated:ENST00000479808) - c.933T>A (cosmic curated:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs782766811 | 313 | M>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.49191442T>A Codon: ATG/TTG Consequence type: missense Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191442T>A Locations: - p.Met313Leu (Ensembl:ENST00000263233) - c.937A>T (Ensembl:ENST00000263233) - p.Met313Leu (Ensembl:ENST00000479808) - c.937A>T (Ensembl:ENST00000479808) Source type: large scale study Cross-references: | |||||||
rs2065507964 | 314 | *>Q | TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000023.11:g.49191439A>G Codon: TAG/CAG Consequence type: stop lost Cytogenetic band: Xp11.23 Genomic location: NC_000023.11:g.49191439A>G Locations: - p.Ter314GlnextTer4 (Ensembl:ENST00000263233) - c.940T>C (Ensembl:ENST00000263233) - p.Ter314GlnextTer4 (Ensembl:ENST00000479808) - c.940T>C (Ensembl:ENST00000479808) Source type: large scale study Cross-references: |