P41732 · TSN7_HUMAN
- ProteinTetraspanin-7
- GeneTSPAN7
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids249 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV54532020 rs1219491191 | 2 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious (0.01) - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000023.11:g.38561550G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38561550G>A Locations: - p.A2T (NCI-TCGA:ENST00000378482) - p.Ala2Thr (Ensembl:ENST00000378482) - c.4G>A (Ensembl:ENST00000378482) Source type: large scale study | |||||||
rs1555989131 | 3 | S>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000023.11:g.38561554C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38561554C>T Locations: - p.Ser3Leu (Ensembl:ENST00000378482) - c.8C>T (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs1287110429 | 3 | S>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000023.11:g.38561553T>C Codon: TCG/CCG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38561553T>C Locations: - p.Ser3Pro (Ensembl:ENST00000378482) - c.7T>C (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
COSV99730763 | 3 | S>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000023.11:g.38561554C>G Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38561554C>G Locations: - c.8C>G (NCI-TCGA:ENST00000378482) - p.S3W (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs1388651814 | 5 | R>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.38561561A>C Codon: AGA/AGC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38561561A>C Locations: - p.Arg5Ser (Ensembl:ENST00000378482) - c.15A>C (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs766118253 | 7 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.38561565G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38561565G>A Locations: - p.Glu7Lys (Ensembl:ENST00000378482) - c.19G>A (Ensembl:ENST00000378482) Source type: large scale study | |||||||
rs766118253 | 7 | E>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.9) Somatic: No Accession: NC_000023.11:g.38561565G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38561565G>C Locations: - p.Glu7Gln (Ensembl:ENST00000378482) - c.19G>C (Ensembl:ENST00000378482) Source type: large scale study | |||||||
rs2069110955 | 8 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.38561569C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38561569C>G Locations: - p.Thr8Ser (Ensembl:ENST00000378482) - c.23C>G (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs2069111091 | 15 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.18) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.38561589C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38561589C>G Locations: - p.Leu15Val (Ensembl:ENST00000378482) - c.43C>G (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs2069111121 | 17 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000023.11:g.38561596C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38561596C>T Locations: - p.Thr17Ile (Ensembl:ENST00000378482) - c.50C>T (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
COSV54531076 | 24 | F>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.169) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000023.11:g.38561617T>C Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38561617T>C Locations: - c.71T>C (NCI-TCGA:ENST00000378482) - p.F24S (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs958532381 | 32 | I>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.301) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.38666134T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38666134T>C Locations: - p.Ile32Thr (Ensembl:ENST00000378482) - c.95T>C (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs755143724 | 36 | V>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.38666146T>G Codon: GTT/GGT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38666146T>G Locations: - p.Val36Gly (Ensembl:ENST00000378482) - c.107T>G (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs1410240439 | 40 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.651) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.38666158G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38666158G>T Locations: - p.Gly40Val (Ensembl:ENST00000378482) - c.119G>T (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs376711090 | 42 | L>F | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000023.11:g.38666163C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38666163C>T Locations: - p.Leu42Phe (Ensembl:ENST00000378482) - c.124C>T (Ensembl:ENST00000378482) Source type: large scale study | |||||||
rs376711090 | 42 | L>V | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.38666163C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38666163C>G Locations: - p.Leu42Val (Ensembl:ENST00000378482) - c.124C>G (Ensembl:ENST00000378482) Source type: large scale study | |||||||
COSV54531438 | 45 | G>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.95) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000023.11:g.38666172G>T Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38666172G>T Locations: - c.133G>T (NCI-TCGA:ENST00000378482) - p.G45C (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs1471177136 | 51 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000023.11:g.38666191T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38666191T>C Locations: - p.Ile51Thr (Ensembl:ENST00000378482) - c.152T>C (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
RCV002214524 rs17851592 | 53 | E>* | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.38666196G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38666196G>T Locations: - p.Glu53Ter (Ensembl:ENST00000378482) - c.157G>T (Ensembl:ENST00000378482) Source type: large scale study | |||||||
TCGA novel | 53 | E>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.672) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.38666197A>G Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38666197A>G Locations: - c.158A>G (NCI-TCGA:ENST00000378482) - p.E53G (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
VAR_037905 rs17851592 | 53 | E>K | Variant of uncertain significance (Ensembl) | UniProt ExAC dbSNP gnomAD | |||
Consequence: missense Somatic: No Accession: NC_000023.11:g.38666196G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38666196G>A Locations: - p.Glu53Lys (UniProt:P41732) Source type: mixed | |||||||
TCGA novel | 55 | S>P | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000023.11:g.38666202del Consequence type: frameshift Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38666202del Locations: - c.163del (NCI-TCGA:ENST00000378482) - p.S55Pfs*34 (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs370854248 | 57 | N>D | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.215) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000023.11:g.38666208A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38666208A>G Locations: - p.Asn57Asp (Ensembl:ENST00000378482) - c.169A>G (Ensembl:ENST00000378482) Source type: large scale study | |||||||
COSV54528704 | 59 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.591) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000023.11:g.38666215C>T Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38666215C>T Locations: - c.176C>T (NCI-TCGA:ENST00000378482) - p.P59L (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: | |||||||
CA412982897 COSV54530940 RCV000502587 RCV001252383 rs1556001023 | 64 | G>R | Intellectual disability (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.38666229G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38666229G>A Locations: - p.Gly64Arg (Ensembl:ENST00000378482) - c.190G>A (Ensembl:ENST00000378482) Disease association: - Intellectual disability Source type: large scale study | |||||||
rs2069781002 | 67 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.146) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.38666239C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38666239C>T Locations: - p.Thr67Ile (Ensembl:ENST00000378482) - c.200C>T (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
COSV54535054 | 73 | G>D | 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.38666257G>A Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38666257G>A Locations: - c.218G>A (NCI-TCGA:ENST00000378482) - p.G73D (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: | |||||||
COSV54533374 | 73 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.38666256G>C Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38666256G>C Locations: - c.217G>C (NCI-TCGA:ENST00000378482) - p.G73R (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: | |||||||
RCV001767869 rs2147449772 | 76 | G>* | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.38666265G>T Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38666265G>T Locations: - p.Gly76Ter (Ensembl:ENST00000378482) - c.226G>T (Ensembl:ENST00000378482) Source type: large scale study | |||||||
COSV99730343 | 80 | T>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.152) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000023.11:g.38666277A>G Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38666277A>G Locations: - c.238A>G (NCI-TCGA:ENST00000378482) - p.T80A (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs888482405 | 81 | C>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.38666281G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38666281G>A Locations: - p.Cys81Tyr (Ensembl:ENST00000378482) - c.242G>A (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
COSV54530008 | 82 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.38666283C>T Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38666283C>T Locations: - c.244C>T (NCI-TCGA:ENST00000378482) - p.R82C (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs771683070 | 82 | R>H | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.232) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.38666284G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38666284G>A Locations: - p.Arg82His (Ensembl:ENST00000378482) - c.245G>A (Ensembl:ENST00000378482) Source type: large scale study | |||||||
RCV002244144 rs2069781286 | 83 | G>A | Intellectual disability, X-linked 58 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.776) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000023.11:g.38666287G>C Codon: GGT/GCT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38666287G>C Locations: - p.Gly83Ala (Ensembl:ENST00000378482) - c.248G>C (Ensembl:ENST00000378482) Disease association: - Intellectual disability, X-linked 58 (XLID58) Source type: large scale study Cross-references: | |||||||
rs2069781286 | 83 | G>D | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.38666287G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38666287G>A Locations: - p.Gly83Asp (Ensembl:ENST00000378482) - c.248G>A (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs367925493 | 83 | G>S | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.38666286G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38666286G>A Locations: - p.Gly83Ser (Ensembl:ENST00000378482) - c.247G>A (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs914254151 | 85 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.163) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000023.11:g.38666292C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38666292C>G Locations: - p.Pro85Ala (Ensembl:ENST00000378482) - c.253C>G (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs914254151 | 85 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.379) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.38666292C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38666292C>T Locations: - p.Pro85Ser (Ensembl:ENST00000378482) - c.253C>T (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
TCGA novel | 86 | W>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.38666296G>A Consequence type: stop gained Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38666296G>A Locations: - c.257G>A (NCI-TCGA:ENST00000378482) - p.W86* (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
CA412981324 RCV000504051 rs1244445697 | 92 | A>S | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.542) - SIFT: tolerated (0.09) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000023.11:g.38671379G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38671379G>T Locations: - p.Ala92Ser (Ensembl:ENST00000378482) - c.274G>T (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
COSV54532715 | 94 | F>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.629) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000023.11:g.38671385T>A Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38671385T>A Locations: - c.280T>A (NCI-TCGA:ENST00000378482) - p.F94I (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: | |||||||
COSV54533527 | 94 | F>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.38671386T>C Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38671386T>C Locations: - c.281T>C (NCI-TCGA:ENST00000378482) - p.F94S (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs1489205168 | 96 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000023.11:g.38671392C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38671392C>G Locations: - p.Ser96Cys (Ensembl:ENST00000378482) - c.287C>G (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
COSV54529513 | 96 | S>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.808) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000023.11:g.38671391T>C Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38671391T>C Locations: - c.286T>C (NCI-TCGA:ENST00000378482) - p.S96P (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: | |||||||
RCV001788537 rs2147452502 | 97 | L>missing | Intellectual disability, X-linked 58 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000023.11:g.38671394del Consequence type: frameshift Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38671394del Locations: - p.Leu97fs (ClinVar:ENST00000378482) Disease association: - Intellectual disability, X-linked 58 (XLID58) Source type: large scale study Cross-references: | |||||||
rs1602122056 | 101 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.472) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000023.11:g.38671406G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38671406G>A Locations: - p.Ala101Thr (Ensembl:ENST00000378482) - c.301G>A (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
TCGA novel | 101 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.173) - SIFT: tolerated (0.99) Somatic: No Accession: NC_000023.11:g.38671407C>T Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38671407C>T Locations: - c.302C>T (NCI-TCGA:ENST00000378482) - p.A101V (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 102 | E>Q | 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.38671409G>C Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38671409G>C Locations: - c.304G>C (NCI-TCGA:ENST00000378482) - p.E102Q (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs778169540 | 103 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.879) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.38671412C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38671412C>T Locations: - p.Leu103Phe (Ensembl:ENST00000378482) - c.307C>T (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
RCV000762621 rs757126777 | 104 | V>I | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.24) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000023.11:g.38671415G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38671415G>A Locations: - p.Val104Ile (Ensembl:ENST00000378482) - c.310G>A (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs2069820336 | 110 | F>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.38671434T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38671434T>C Locations: - p.Phe110Ser (Ensembl:ENST00000378482) - c.329T>C (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
TCGA novel | 110 | F>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.714) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.38671433T>G Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38671433T>G Locations: - c.328T>G (NCI-TCGA:ENST00000378482) - p.F110V (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV54529540 rs745878718 | 113 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.431) - SIFT: tolerated (0.08) - PolyPhen: benign (0.426) - SIFT: tolerated (0.07) Somatic: Yes Population frequencies: - MAF: 0.0001254 (gnomAD) Accession: NC_000023.11:g.38671443G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38671443G>A Locations: - p.R113H (NCI-TCGA:ENST00000378482) - p.Arg113His (Ensembl:ENST00000378482) - c.338G>A (Ensembl:ENST00000378482) Source type: large scale study | |||||||
TCGA novel | 117 | K>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.84) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000023.11:g.38674224A>C Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38674224A>C Locations: - c.349A>C (NCI-TCGA:ENST00000378482) - p.K117Q (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs867549941 | 119 | T>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000023.11:g.38674231C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38674231C>A Locations: - p.Thr119Asn (Ensembl:ENST00000378482) - c.356C>A (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs1162654286 | 121 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.163) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000023.11:g.38674236C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38674236C>G Locations: - p.Leu121Val (Ensembl:ENST00000378482) - c.361C>G (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs760136867 | 122 | R>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000023.11:g.38674241G>T Codon: AGG/AGT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38674241G>T Locations: - p.Arg122Ser (Ensembl:ENST00000378482) - c.366G>T (Ensembl:ENST00000378482) Source type: large scale study | |||||||
COSV105149024 rs1289768959 | 123 | T>I | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.13) - SIFT: tolerated (0.13) Somatic: Yes Accession: NC_000023.11:g.38674243C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38674243C>T Locations: - p.Thr123Ile (Ensembl:ENST00000378482) - c.368C>T (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs1361665241 | 125 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000023.11:g.38674248A>G Codon: ACG/GCG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38674248A>G Locations: - p.Thr125Ala (Ensembl:ENST00000378482) - c.373A>G (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs767461332 | 125 | T>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000023.11:g.38674249C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38674249C>T Locations: - p.Thr125Met (Ensembl:ENST00000378482) - c.374C>T (Ensembl:ENST00000378482) Source type: large scale study | |||||||
rs767461332 | 125 | T>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000023.11:g.38674249C>G Codon: ACG/AGG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38674249C>G Locations: - p.Thr125Arg (Ensembl:ENST00000378482) - c.374C>G (Ensembl:ENST00000378482) Source type: large scale study | |||||||
VAR_037906 rs17851593 | 127 | A>T | UniProt dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000023.11:g.38674254G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38674254G>A Locations: - p.Ala127Thr (UniProt:P41732) Source type: mixed | |||||||
rs1243030755 | 128 | M>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000023.11:g.38674257A>C Codon: ATG/CTG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38674257A>C Locations: - p.Met128Leu (Ensembl:ENST00000378482) - c.382A>C (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs1243030755 | 128 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.38674257A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38674257A>G Locations: - p.Met128Val (Ensembl:ENST00000378482) - c.382A>G (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs1472779519 | 129 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.38674260C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38674260C>T Locations: - p.Gln129Ter (Ensembl:ENST00000378482) - c.385C>T (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
COSV54532076 | 130 | T>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000023.11:g.38674264C>A Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38674264C>A Locations: - c.389C>A (NCI-TCGA:ENST00000378482) - p.T130N (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs138427413 | 132 | N>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.147) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.38674270A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38674270A>G Locations: - p.Asn132Ser (Ensembl:ENST00000378482) - c.395A>G (Ensembl:ENST00000378482) Source type: large scale study | |||||||
rs1424754978 | 133 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.38674273G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38674273G>A Locations: - p.Gly133Asp (Ensembl:ENST00000378482) - c.398G>A (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs764350033 | 133 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000023.11:g.38674272G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38674272G>A Locations: - p.Gly133Ser (Ensembl:ENST00000378482) - c.397G>A (Ensembl:ENST00000378482) Source type: large scale study | |||||||
rs754183451 | 134 | N>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.77) Somatic: No Accession: NC_000023.11:g.38674277T>A Codon: AAT/AAA Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38674277T>A Locations: - p.Asn134Lys (Ensembl:ENST00000378482) - c.402T>A (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs2069839350 | 134 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000023.11:g.38674276A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38674276A>G Locations: - p.Asn134Ser (Ensembl:ENST00000378482) - c.401A>G (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs757108282 | 135 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.294) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.38674278G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38674278G>A Locations: - p.Asp135Asn (Ensembl:ENST00000378482) - c.403G>A (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs778903482 | 136 | E>D | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000023.11:g.38674283G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38674283G>C Locations: - p.Glu136Asp (Ensembl:ENST00000378482) - c.408G>C (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs745763721 | 137 | R>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.38674284A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38674284A>G Locations: - p.Arg137Gly (Ensembl:ENST00000378482) - c.409A>G (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs1339651261 | 137 | R>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000023.11:g.38674285G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38674285G>A Locations: - p.Arg137Lys (Ensembl:ENST00000378482) - c.410G>A (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
CA10386095 RCV000501003 rs201047637 | 139 | R>Q | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.73) Somatic: No Population frequencies: - MAF: 0.00026 (ClinVar) Accession: NC_000023.11:g.38674291G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38674291G>A Locations: - p.Arg139Gln (Ensembl:ENST00000378482) - c.416G>A (Ensembl:ENST00000378482) Source type: large scale study | |||||||
rs1450434566 | 139 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.666) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000023.11:g.38674290C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38674290C>T Locations: - p.Arg139Trp (Ensembl:ENST00000378482) - c.415C>T (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs1602123309 | 144 | V>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000023.11:g.38674305G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38674305G>C Locations: - p.Val144Leu (Ensembl:ENST00000378482) - c.430G>C (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs746469605 | 145 | Q>* | ExAC | ||||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.38674308C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38674308C>T Locations: - p.Gln145Ter (Ensembl:ENST00000378482) - c.433C>T (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
COSV54529244 rs2069839651 | 146 | R>C | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.829) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.38674311C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38674311C>T Locations: - p.Arg146Cys (Ensembl:ENST00000378482) - c.436C>T (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
COSV99731558 rs149275253 | 146 | R>H | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000023.11:g.38674312G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38674312G>A Locations: - p.Arg146His (Ensembl:ENST00000378482) - c.437G>A (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
RCV001761355 rs2147454249 | 147 | S>N | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000023.11:g.38674315G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38674315G>A Locations: - p.Ser147Asn (Ensembl:ENST00000378482) - c.440G>A (Ensembl:ENST00000378482) Source type: large scale study | |||||||
rs1273841681 | 149 | S>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000023.11:g.38675709G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675709G>T Locations: - p.Ser149Ile (Ensembl:ENST00000378482) - c.446G>T (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
TCGA novel | 149 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000023.11:g.38675709G>A Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675709G>A Locations: - c.446G>A (NCI-TCGA:ENST00000378482) - p.S149N (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV99731416 | 150 | C>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.38675713C>A Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675713C>A Locations: - c.450C>A (NCI-TCGA:ENST00000378482) - p.C150* (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs2069848961 | 152 | G>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.38675718G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675718G>T Locations: - p.Gly152Val (Ensembl:ENST00000378482) - c.455G>T (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
RCV001797351 rs2147454989 | 154 | Q>H | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000023.11:g.38675725G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675725G>C Locations: - p.Gln154His (Ensembl:ENST00000378482) - c.462G>C (Ensembl:ENST00000378482) Source type: large scale study | |||||||
COSV99730180 | 156 | Y>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.38675731C>A Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675731C>A Locations: - c.468C>A (NCI-TCGA:ENST00000378482) - p.Y156* (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs1288379357 | 158 | N>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.734) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.38675735A>C Codon: AAC/CAC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675735A>C Locations: - p.Asn158His (Ensembl:ENST00000378482) - c.472A>C (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
COSV54532333 | 158 | N>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.796) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.38675735A>T Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675735A>T Locations: - c.472A>T (NCI-TCGA:ENST00000378482) - p.N158Y (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: | |||||||
COSV99731218 | 160 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.64) Somatic: Yes Accession: NC_000023.11:g.38675742G>A Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675742G>A Locations: - c.479G>A (NCI-TCGA:ENST00000378482) - p.S160N (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: | |||||||
COSV54529561 | 161 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.2) Somatic: Yes Accession: NC_000023.11:g.38675745C>T Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675745C>T Locations: - c.482C>T (NCI-TCGA:ENST00000378482) - p.T161I (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs2069849137 | 162 | S>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.055) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000023.11:g.38675748G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675748G>A Locations: - p.Ser162Asn (Ensembl:ENST00000378482) - c.485G>A (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs1280368702 | 163 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000023.11:g.38675751C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675751C>T Locations: - p.Pro163Leu (Ensembl:ENST00000378482) - c.488C>T (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs895812383 | 165 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.402) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.38675758C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675758C>G Locations: - p.Phe165Leu (Ensembl:ENST00000378482) - c.495C>G (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs1344003892 | 166 | L>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000023.11:g.38675759C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675759C>A Locations: - p.Leu166Met (Ensembl:ENST00000378482) - c.496C>A (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs201317934 | 168 | H>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000023.11:g.38675766A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675766A>G Locations: - p.His168Arg (Ensembl:ENST00000378482) - c.503A>G (Ensembl:ENST00000378482) Source type: large scale study | |||||||
COSV54531715 rs1569316023 | 170 | I>T | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.146) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000023.11:g.38675772T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675772T>C Locations: - p.Ile170Thr (Ensembl:ENST00000378482) - c.509T>C (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs11541009 | 171 | P>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.38675775C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675775C>A Locations: - p.Pro171His (Ensembl:ENST00000378482) - c.512C>A (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
COSV54534723 | 171 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.38675775C>T Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675775C>T Locations: - c.512C>T (NCI-TCGA:ENST00000378482) - p.P171L (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs11541009 | 171 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.38675775C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675775C>G Locations: - p.Pro171Arg (Ensembl:ENST00000378482) - c.512C>G (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs200570271 | 172 | P>A | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.38675777C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675777C>G Locations: - p.Pro172Ala (Ensembl:ENST00000378482) - c.514C>G (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
VAR_009259 CA121626 RCV000012396 RCV000721059 RCV000904077 rs104894951 | 172 | P>H | XLID58 (UniProt) History of neurodevelopmental disorder (ClinVar) Intellectual disability, X-linked 58 (ClinVar) | Pathogenic (UniProt) | UniProt ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00126 (ClinVar) Accession: NC_000023.11:g.38675778C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675778C>A Locations: - p.Pro172His (UniProt:P41732) Disease association: - History of neurodevelopmental disorder - Intellectual disability, X-linked 58 (XLID58) - Intellectual developmental disorder, X-linked 58 (XLID58) Source type: mixed | |||||||
rs104894951 | 172 | P>R | Likely benign (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000023.11:g.38675778C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675778C>G Locations: - p.Pro172Arg (Ensembl:ENST00000378482) - c.515C>G (Ensembl:ENST00000378482) Source type: large scale study | |||||||
rs200570271 | 172 | P>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000023.11:g.38675777C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675777C>T Locations: - p.Pro172Ser (Ensembl:ENST00000378482) - c.514C>T (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs200570271 | 172 | P>T | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.67) Somatic: No Accession: NC_000023.11:g.38675777C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675777C>A Locations: - p.Pro172Thr (Ensembl:ENST00000378482) - c.514C>A (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
RCV001252384 rs752121179 | 173 | S>missing | Intellectual disability (ClinVar) | Variant of uncertain significance (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000023.11:g.38675779del Consequence type: frameshift Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675779del Locations: - p.Ser173fs (ClinVar:ENST00000378482) Disease association: - Intellectual disability Source type: large scale study Cross-references: | |||||||
COSV54531581 rs752121179 | 173 | S>A | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP | |||
Consequence: frameshift Somatic: No Accession: NC_000023.11:g.38675773del Consequence type: frameshift Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675773del Locations: - c.516del (NCI-TCGA:ENST00000378482) - p.S173Afs*4 (NCI-TCGA:ENST00000378482) Source type: large scale study | |||||||
rs2147455037 | 175 | C>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.38675787G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675787G>A Locations: - p.Cys175Tyr (Ensembl:ENST00000378482) - c.524G>A (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs2069849449 | 176 | M>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.63) Somatic: No Accession: NC_000023.11:g.38675789A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675789A>G Locations: - p.Met176Val (Ensembl:ENST00000378482) - c.526A>G (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
COSV105149101 rs868193702 | 178 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | cosmic curated TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.85) - PolyPhen: benign (0.01) - SIFT: tolerated (0.86) Somatic: Yes Population frequencies: - MAF: 0.00000548 (gnomAD) Accession: NC_000023.11:g.38675795G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675795G>A Locations: - p.E178K (NCI-TCGA:ENST00000378482) - p.Glu178Lys (Ensembl:ENST00000378482) - c.532G>A (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs2069849610 | 179 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.38675799C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675799C>T Locations: - p.Thr179Ile (Ensembl:ENST00000378482) - c.536C>T (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs1180004771 | 181 | C>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.38675805G>T Codon: TGT/TTT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675805G>T Locations: - p.Cys181Phe (Ensembl:ENST00000378482) - c.542G>T (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs1602124034 | 181 | C>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.38675804T>G Codon: TGT/GGT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675804T>G Locations: - p.Cys181Gly (Ensembl:ENST00000378482) - c.541T>G (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
COSV99730399 | 181 | C>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.38675805G>A Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675805G>A Locations: - c.542G>A (NCI-TCGA:ENST00000378482) - p.C181Y (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs2069849780 | 182 | N>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000023.11:g.38675807A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675807A>G Locations: - p.Asn182Asp (Ensembl:ENST00000378482) - c.544A>G (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs2069849817 | 182 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.38675808A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675808A>G Locations: - p.Asn182Ser (Ensembl:ENST00000378482) - c.545A>G (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs2069849780 | 182 | N>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.38675807A>T Codon: AAT/TAT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675807A>T Locations: - p.Asn182Tyr (Ensembl:ENST00000378482) - c.544A>T (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs776814898 | 183 | P>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.38675811C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675811C>A Locations: - p.Pro183His (Ensembl:ENST00000378482) - c.548C>A (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs776814898 | 183 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000023.11:g.38675811C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675811C>T Locations: - p.Pro183Leu (Ensembl:ENST00000378482) - c.548C>T (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
COSV99730482 | 183 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.23) Somatic: Yes Accession: NC_000023.11:g.38675810C>T Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675810C>T Locations: - c.547C>T (NCI-TCGA:ENST00000378482) - p.P183S (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs1399735836 | 184 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000023.11:g.38675815G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675815G>T Locations: - p.Gln184His (Ensembl:ENST00000378482) - c.552G>T (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs1016130945 | 184 | Q>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000023.11:g.38675814A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675814A>T Locations: - p.Gln184Leu (Ensembl:ENST00000378482) - c.551A>T (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs1016130945 | 184 | Q>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.226) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000023.11:g.38675814A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675814A>C Locations: - p.Gln184Pro (Ensembl:ENST00000378482) - c.551A>C (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs1016130945 | 184 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000023.11:g.38675814A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675814A>G Locations: - p.Gln184Arg (Ensembl:ENST00000378482) - c.551A>G (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs762008206 | 185 | D>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000023.11:g.38675817A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675817A>T Locations: - p.Asp185Val (Ensembl:ENST00000378482) - c.554A>T (Ensembl:ENST00000378482) Source type: large scale study | |||||||
rs2069850056 | 186 | L>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.462) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.38675819C>A Codon: CTA/ATA Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675819C>A Locations: - p.Leu186Ile (Ensembl:ENST00000378482) - c.556C>A (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs765442747 | 187 | H>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.224) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.38675822C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675822C>T Locations: - p.His187Tyr (Ensembl:ENST00000378482) - c.559C>T (Ensembl:ENST00000378482) Source type: large scale study | |||||||
COSV54534924 | 189 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000023.11:g.38675828C>G Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675828C>G Locations: - c.565C>G (NCI-TCGA:ENST00000378482) - p.L189V (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs2147455109 | 192 | A>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.891) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.38675837G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675837G>C Locations: - p.Ala192Pro (Ensembl:ENST00000378482) - c.574G>C (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
COSV54528949 rs766145171 | 193 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: tolerated (0.21) - PolyPhen: benign (0.059) - SIFT: tolerated (0.07) Somatic: Yes Population frequencies: - MAF: 0.00003283 (gnomAD) Accession: NC_000023.11:g.38675840G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675840G>A Locations: - p.A193T (NCI-TCGA:ENST00000378482) - p.Ala193Thr (Ensembl:ENST00000378482) - c.577G>A (Ensembl:ENST00000378482) Source type: large scale study | |||||||
rs1398466767 | 197 | N>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.325) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000023.11:g.38675854C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675854C>A Locations: - p.Asn197Lys (Ensembl:ENST00000378482) - c.591C>A (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
COSV54532179 | 198 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.17) Somatic: Yes Accession: NC_000023.11:g.38675857G>T Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38675857G>T Locations: - c.594G>T (NCI-TCGA:ENST00000378482) - p.Q198H (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: | |||||||
TCGA novel | 201 | C>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.38681209T>A Consequence type: stop gained Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38681209T>A Locations: - c.603T>A (NCI-TCGA:ENST00000378482) - p.C201* (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 203 | D>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000023.11:g.38681214A>C Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38681214A>C Locations: - c.608A>C (NCI-TCGA:ENST00000378482) - p.D203A (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 205 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.913) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.38681220T>C Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38681220T>C Locations: - c.614T>C (NCI-TCGA:ENST00000378482) - p.V205A (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1167972180 | 205 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.916) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.38681219G>T Codon: GTA/TTA Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38681219G>T Locations: - p.Val205Leu (Ensembl:ENST00000378482) - c.613G>T (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
COSV54534897 | 206 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.088) - SIFT: tolerated (0.2) Somatic: Yes Accession: NC_000023.11:g.38681223C>T Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38681223C>T Locations: - c.617C>T (NCI-TCGA:ENST00000378482) - p.T206I (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs778642346 | 207 | S>G | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000023.11:g.38681225A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38681225A>G Locations: - p.Ser207Gly (Ensembl:ENST00000378482) - c.619A>G (Ensembl:ENST00000378482) Source type: large scale study | |||||||
rs1348894535 | 209 | M>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000023.11:g.38681232T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38681232T>C Locations: - p.Met209Thr (Ensembl:ENST00000378482) - c.626T>C (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
COSV54528394 COSV54531841 | 210 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.733) - SIFT: tolerated (0.09) Somatic: Yes Accession: NC_000023.11:g.38681236G>C Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38681236G>C Locations: - c.630G>C (NCI-TCGA:ENST00000378482) - p.E210D (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs2069889241 | 211 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.76) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.38681238C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38681238C>T Locations: - p.Thr211Ile (Ensembl:ENST00000378482) - c.632C>T (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs1462417531 | 213 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.91) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.38681244T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38681244T>C Locations: - p.Met213Thr (Ensembl:ENST00000378482) - c.638T>C (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs1164561911 | 213 | M>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.207) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000023.11:g.38681243A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38681243A>G Locations: - p.Met213Val (Ensembl:ENST00000378482) - c.637A>G (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs2069889337 | 214 | G>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.48) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.38681247G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38681247G>A Locations: - p.Gly214Glu (Ensembl:ENST00000378482) - c.641G>A (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs769831863 | 217 | A>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.32) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.38681256C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38681256C>G Locations: - p.Ala217Gly (Ensembl:ENST00000378482) - c.650C>G (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs750386506 | 217 | A>T | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.38681255G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38681255G>A Locations: - p.Ala217Thr (Ensembl:ENST00000378482) - c.649G>A (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
CA121624 RCV000012395 rs104894950 | 218 | G>* | Intellectual disability, X-linked 58 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.38681258G>T Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38681258G>T Locations: - p.Gly218Ter (Ensembl:ENST00000378482) - c.652G>T (Ensembl:ENST00000378482) Disease association: - Intellectual disability, X-linked 58 (XLID58) Source type: large scale study Cross-references: | |||||||
COSV54529584 | 220 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.17) - SIFT: tolerated (0.33) Somatic: Yes Accession: NC_000023.11:g.38681264G>A Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38681264G>A Locations: - c.658G>A (NCI-TCGA:ENST00000378482) - p.A220T (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs552248151 | 220 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.654) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.38681265C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38681265C>T Locations: - p.Ala220Val (Ensembl:ENST00000378482) - c.659C>T (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
TCGA novel | 222 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.38681271G>T Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38681271G>T Locations: - c.665G>T (NCI-TCGA:ENST00000378482) - p.G222V (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV54529429 rs868156656 | 224 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: tolerated (0.09) - PolyPhen: probably damaging (1) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000023.11:g.38681276G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38681276G>A Locations: - p.A224T (NCI-TCGA:ENST00000378482) - p.Ala224Thr (Ensembl:ENST00000378482) - c.670G>A (Ensembl:ENST00000378482) Source type: large scale study | |||||||
COSV99730842 | 225 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.649) - SIFT: tolerated (0.09) Somatic: Yes Accession: NC_000023.11:g.38681281C>A Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38681281C>A Locations: - c.675C>A (NCI-TCGA:ENST00000378482) - p.F225L (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs763132680 | 225 | F>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.38681280T>A Codon: TTC/TAC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38681280T>A Locations: - p.Phe225Tyr (Ensembl:ENST00000378482) - c.674T>A (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs1188308149 | 227 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.38681286A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38681286A>G Locations: - p.Gln227Arg (Ensembl:ENST00000378482) - c.680A>G (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs931903625 | 229 | I>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.764) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000023.11:g.38687602A>T Codon: ATT/TTT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38687602A>T Locations: - p.Ile229Phe (Ensembl:ENST00000378482) - c.685A>T (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs1383243058 | 229 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.682) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.38687603T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38687603T>C Locations: - p.Ile229Thr (Ensembl:ENST00000378482) - c.686T>C (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs2147461336 | 231 | M>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000023.11:g.38687608A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38687608A>G Locations: - p.Met231Val (Ensembl:ENST00000378482) - c.691A>G (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
rs756823240 | 234 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.165) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000023.11:g.38687617G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38687617G>T Locations: - p.Ala234Ser (Ensembl:ENST00000378482) - c.700G>T (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
RCV001754674 rs1218393567 | 236 | C>R | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000023.11:g.38687623T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38687623T>C Locations: - p.Cys236Arg (Ensembl:ENST00000378482) - c.706T>C (Ensembl:ENST00000378482) Source type: large scale study Cross-references: | |||||||
TCGA novel | 239 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.149) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000023.11:g.38687633G>A Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38687633G>A Locations: - c.716G>A (NCI-TCGA:ENST00000378482) - p.R239Q (NCI-TCGA:ENST00000378482) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs368779486 | 239 | R>W | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.891) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.38687632C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38687632C>T Locations: - p.Arg239Trp (Ensembl:ENST00000378482) - c.715C>T (Ensembl:ENST00000378482) Source type: large scale study | |||||||
rs1804492 | 242 | T>K | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.135) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.38687642C>A Codon: ACG/AAG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38687642C>A Locations: - p.Thr242Lys (Ensembl:ENST00000378482) - c.725C>A (Ensembl:ENST00000378482) Source type: large scale study | |||||||
rs1804492 | 242 | T>M | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000023.11:g.38687642C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38687642C>T Locations: - p.Thr242Met (Ensembl:ENST00000378482) - c.725C>T (Ensembl:ENST00000378482) Source type: large scale study | |||||||
rs1314979041 | 249 | V>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.38687663T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: Xp11.4 Genomic location: NC_000023.11:g.38687663T>G Locations: - p.Val249Gly (Ensembl:ENST00000378482) - c.746T>G (Ensembl:ENST00000378482) Source type: large scale study Cross-references: |