P0C7M4 · RHF2B_HUMAN
- ProteinRhox homeobox family member 2B
- GeneRHOXF2B
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids288 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score4/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1555996409 | 7 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000023.11:g.120077534A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077534A>G Locations: - p.Cys7Arg (Ensembl:ENST00000371402) - c.19T>C (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996407 | 10 | Y>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000023.11:g.120077525A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077525A>G Locations: - p.Tyr10His (Ensembl:ENST00000371402) - c.28T>C (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1234002406 | 13 | S>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.162) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000023.11:g.120077515C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077515C>T Locations: - p.Ser13Asn (Ensembl:ENST00000371402) - c.38G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996403 | 20 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000023.11:g.120077493G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077493G>C Locations: - p.Asp20Glu (Ensembl:ENST00000371402) - c.60C>G (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1444615384 | 20 | D>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.764) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.120077495C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077495C>G Locations: - p.Asp20His (Ensembl:ENST00000371402) - c.58G>C (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1444615384 | 20 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.395) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000023.11:g.120077495C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077495C>T Locations: - p.Asp20Asn (Ensembl:ENST00000371402) - c.58G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996400 | 21 | D>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.120077492C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077492C>G Locations: - p.Asp21His (Ensembl:ENST00000371402) - c.61G>C (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996400 | 21 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000023.11:g.120077492C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077492C>T Locations: - p.Asp21Asn (Ensembl:ENST00000371402) - c.61G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1272857028 | 27 | D>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000023.11:g.120077288T>G Codon: GAT/GCT Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077288T>G Locations: - p.Asp27Ala (Ensembl:ENST00000371402) - c.80A>C (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1202978823 | 27 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.162) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000023.11:g.120077474C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077474C>T Locations: - p.Asp27Asn (Ensembl:ENST00000371402) - c.79G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
TCGA novel | 30 | A>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000023.11:g.120077279G>T Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077279G>T Locations: - c.89C>A (NCI-TCGA:ENST00000371402) - p.A30D (NCI-TCGA:ENST00000371402) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2057170415 | 30 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.896) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000023.11:g.120077280C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077280C>T Locations: - p.Ala30Thr (Ensembl:ENST00000371402) - c.88G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs782548084 | 31 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000023.11:g.120077277T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077277T>C Locations: - p.Met31Val (Ensembl:ENST00000371402) - c.91A>G (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs782647634 | 34 | S>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.795) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.120077267G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077267G>A Locations: - p.Ser34Leu (Ensembl:ENST00000371402) - c.101C>T (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1251262931 | 41 | E>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000023.11:g.120077247C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077247C>G Locations: - p.Glu41Gln (Ensembl:ENST00000371402) - c.121G>C (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs2057170194 | 45 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.67) Somatic: No Accession: NC_000023.11:g.120077233A>C Codon: GAT/GAG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077233A>C Locations: - p.Asp45Glu (Ensembl:ENST00000371402) - c.135T>G (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs781839078 | 45 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.63) Somatic: No Accession: NC_000023.11:g.120077234T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077234T>C Locations: - p.Asp45Gly (Ensembl:ENST00000371402) - c.134A>G (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996363 | 45 | D>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000023.11:g.120077235C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077235C>G Locations: - p.Asp45His (Ensembl:ENST00000371402) - c.133G>C (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996363 | 45 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.74) Somatic: No Accession: NC_000023.11:g.120077235C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077235C>T Locations: - p.Asp45Asn (Ensembl:ENST00000371402) - c.133G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1468185226 | 46 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.86) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000023.11:g.120077231G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077231G>A Locations: - p.Ala46Val (Ensembl:ENST00000371402) - c.137C>T (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996359 | 49 | E>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000023.11:g.120077223C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077223C>G Locations: - p.Glu49Gln (Ensembl:ENST00000371402) - c.145G>C (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996357 | 51 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000023.11:g.120077217C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077217C>T Locations: - p.Glu51Lys (Ensembl:ENST00000371402) - c.151G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996354 | 52 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.55) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000023.11:g.120077214G>C Codon: CAA/GAA Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077214G>C Locations: - p.Gln52Glu (Ensembl:ENST00000371402) - c.154C>G (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996352 | 56 | A>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.398) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.120077202C>G Codon: GCA/CCA Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077202C>G Locations: - p.Ala56Pro (Ensembl:ENST00000371402) - c.166G>C (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
COSV101003948 | 57 | G>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000023.11:g.120077199C>A Consequence type: stop gained Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077199C>A Locations: - c.169G>T (NCI-TCGA:ENST00000371402) - p.G57* (NCI-TCGA:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996350 | 57 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.519) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000023.11:g.120077198C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077198C>T Locations: - p.Gly57Glu (Ensembl:ENST00000371402) - c.170G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996350 | 57 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.287) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000023.11:g.120077198C>A Codon: GGA/GTA Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077198C>A Locations: - p.Gly57Val (Ensembl:ENST00000371402) - c.170G>T (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996349 | 58 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: tolerated (0.6) Somatic: No Accession: NC_000023.11:g.120077194T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077194T>G Locations: - p.Glu58Asp (Ensembl:ENST00000371402) - c.174A>C (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
COSV101003975 | 60 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: tolerated (0.46) Somatic: Yes Accession: NC_000023.11:g.120077188T>A Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077188T>A Locations: - c.180A>T (NCI-TCGA:ENST00000371402) - p.L60F (NCI-TCGA:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996346 | 60 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000023.11:g.120077190A>C Codon: TTA/GTA Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077190A>C Locations: - p.Leu60Val (Ensembl:ENST00000371402) - c.178T>G (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996342 | 62 | S>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.75) Somatic: No Accession: NC_000023.11:g.120077183G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077183G>A Locations: - p.Ser62Leu (Ensembl:ENST00000371402) - c.185C>T (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
COSV65054921 | 63 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.892) - SIFT: tolerated (0.42) Somatic: Yes Accession: NC_000023.11:g.120077181C>T Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077181C>T Locations: - c.187G>A (NCI-TCGA:ENST00000371402) - p.A63T (NCI-TCGA:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996341 | 64 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000023.11:g.120077177C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077177C>T Locations: - p.Gly64Glu (Ensembl:ENST00000371402) - c.191G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996338 | 65 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000023.11:g.120077174G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077174G>A Locations: - p.Ala65Val (Ensembl:ENST00000371402) - c.194C>T (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs782517773 | 67 | G>D | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000023.11:g.120077168C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077168C>T Locations: - p.Gly67Asp (Ensembl:ENST00000371402) - c.200G>A (Ensembl:ENST00000371402) Source type: large scale study | |||||||
rs1555996337 | 67 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.86) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000023.11:g.120077169C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077169C>T Locations: - p.Gly67Ser (Ensembl:ENST00000371402) - c.199G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
VAR_078301 rs781837897 | 68 | G>R | found in infertile men; uncertain significance; decreased induction of target genes expression (UniProt) | Variant of uncertain significance (UniProt) | UniProt 1000Genomes ExAC dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000023.11:g.120077166C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077166C>T Locations: - p.Gly68Arg (UniProt:P0C7M4) Source type: mixed Cross-references: | |||||||
rs782364438 | 69 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.301) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000023.11:g.120077163C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077163C>T Locations: - p.Glu69Lys (Ensembl:ENST00000371402) - c.205G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
COSV65054897 | 70 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000023.11:g.120077160C>A Consequence type: stop gained Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077160C>A Locations: - c.208G>T (NCI-TCGA:ENST00000371402) - p.E70* (NCI-TCGA:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996324 | 72 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.428) - SIFT: tolerated (0.82) Somatic: No Accession: NC_000023.11:g.120077152A>C Codon: GAT/GAG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077152A>C Locations: - p.Asp72Glu (Ensembl:ENST00000371402) - c.216T>G (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs782092270 | 72 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.55) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000023.11:g.120077153T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077153T>C Locations: - p.Asp72Gly (Ensembl:ENST00000371402) - c.215A>G (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1569307918 | 72 | D>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.866) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000023.11:g.120077154C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077154C>A Locations: - p.Asp72Tyr (Ensembl:ENST00000371402) - c.214G>T (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
TCGA novel | 74 | G>A | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000023.11:g.120077147del Consequence type: frameshift Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077147del Locations: - c.221del (NCI-TCGA:ENST00000371402) - p.G74Afs*98 (NCI-TCGA:ENST00000371402) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2057169450 | 74 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000023.11:g.120077147C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077147C>T Locations: - p.Gly74Asp (Ensembl:ENST00000371402) - c.221G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs782290026 | 74 | G>R | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000023.11:g.120077148C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077148C>G Locations: - p.Gly74Arg (Ensembl:ENST00000371402) - c.220G>C (Ensembl:ENST00000371402) Source type: large scale study | |||||||
COSV65054934 rs782290026 rs782290026,COSV65054934 | 74 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic 1000Genomes ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: tolerated (0.43) - PolyPhen: probably damaging (0.997) - SIFT: tolerated (0.47) Somatic: No Population frequencies: - MAF: 0.0001005 (gnomAD) Accession: NC_000023.11:g.120077148C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077148C>T Locations: - p.G74S (NCI-TCGA:ENST00000371402) - p.Gly74Ser (Ensembl:ENST00000371402) - c.220G>A (Ensembl:ENST00000371402) Source type: large scale study | |||||||
COSV65054915 rs782660989 | 75 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic 1000Genomes ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.92) - SIFT: deleterious (0.02) - PolyPhen: probably damaging (0.919) - SIFT: tolerated (0.15) Somatic: No Population frequencies: - MAF: 0.0000867 (gnomAD) Accession: NC_000023.11:g.120077145C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077145C>T Locations: - p.G75R (NCI-TCGA:ENST00000371402) - p.Gly75Arg (Ensembl:ENST00000371402) - c.223G>A (Ensembl:ENST00000371402) Source type: large scale study | |||||||
rs1555996318 | 77 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000023.11:g.120077139C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077139C>T Locations: - p.Glu77Lys (Ensembl:ENST00000371402) - c.229G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs782395884 | 78 | K>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.634) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000023.11:g.120077134T>A Codon: AAA/AAT Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077134T>A Locations: - p.Lys78Asn (Ensembl:ENST00000371402) - c.234A>T (Ensembl:ENST00000371402) Source type: large scale study | |||||||
COSV101003979 | 81 | G>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: tolerated (0.19) Somatic: Yes Accession: NC_000023.11:g.120077127C>A Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077127C>A Locations: - c.241G>T (NCI-TCGA:ENST00000371402) - p.G81C (NCI-TCGA:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs782613019 | 81 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.687) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000023.11:g.120077127C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077127C>T Locations: - p.Gly81Ser (Ensembl:ENST00000371402) - c.241G>A (Ensembl:ENST00000371402) Source type: large scale study | |||||||
TCGA novel | 82 | G>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.668) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000023.11:g.120077124C>A Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077124C>A Locations: - c.244G>T (NCI-TCGA:ENST00000371402) - p.G82C (NCI-TCGA:ENST00000371402) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs781807702 | 82 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000023.11:g.120077124C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077124C>T Locations: - p.Gly82Ser (Ensembl:ENST00000371402) - c.244G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
COSV101003958 rs782535944 | 83 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.57) - PolyPhen: benign (0) - SIFT: tolerated (0.5) Somatic: No Population frequencies: - MAF: 0.0001118 (gnomAD) Accession: NC_000023.11:g.120077121C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077121C>T Locations: - p.A83T (NCI-TCGA:ENST00000371402) - p.Ala83Thr (Ensembl:ENST00000371402) - c.247G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs199654934 | 84 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | ESP ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.482) - SIFT: tolerated (0.53) - PolyPhen: possibly damaging (0.477) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.0001182 (gnomAD) Accession: NC_000023.11:g.120077118C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077118C>T Locations: - p.G84R (NCI-TCGA:ENST00000371402) - p.Gly84Arg (Ensembl:ENST00000371402) - c.250G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs782760049 | 86 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.38) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.120077111G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077111G>A Locations: - p.Pro86Leu (Ensembl:ENST00000371402) - c.257C>T (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
COSV101003973 | 86 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.086) - SIFT: tolerated (0.17) Somatic: Yes Accession: NC_000023.11:g.120077112G>A Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077112G>A Locations: - c.256C>T (NCI-TCGA:ENST00000371402) - p.P86S (NCI-TCGA:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1478039650 | 87 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.175) - SIFT: tolerated (0.07) - PolyPhen: benign (0.181) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.120077108C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077108C>T Locations: - p.G87D (NCI-TCGA:ENST00000371402) - p.Gly87Asp (Ensembl:ENST00000371402) - c.260G>A (Ensembl:ENST00000371402) Source type: large scale study | |||||||
rs781828509 | 87 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.919) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.120077109C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077109C>G Locations: - p.Gly87Arg (Ensembl:ENST00000371402) - c.259G>C (Ensembl:ENST00000371402) Source type: large scale study | |||||||
rs782722496 | 88 | H>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.120077106G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077106G>A Locations: - p.His88Tyr (Ensembl:ENST00000371402) - c.262C>T (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs2057168840 | 89 | L>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000023.11:g.120077102A>T Codon: CTA/CAA Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077102A>T Locations: - p.Leu89Gln (Ensembl:ENST00000371402) - c.266T>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs782408568 COSV65054833 | 90 | W>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC gnomAD NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.789) - SIFT: tolerated (0.11) - PolyPhen: possibly damaging (0.782) - SIFT: tolerated (0.18) Somatic: Yes Accession: NC_000023.11:g.120077098C>G, NC_000023.11:g.120077098C>A Codon: TGG/TGC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077098C>G, NC_000023.11:g.120077098C>A Locations: - p.Trp90Cys (Ensembl:ENST00000371402) - c.270G>C (Ensembl:ENST00000371402) - c.270G>T (NCI-TCGA:ENST00000371402) - p.W90C (NCI-TCGA:ENST00000371402) Source type: large scale study | |||||||
rs782035552 | 90 | W>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.152) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000023.11:g.120077100A>T Codon: TGG/AGG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077100A>T Locations: - p.Trp90Arg (Ensembl:ENST00000371402) - c.268T>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
COSV65054868 | 91 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.28) Somatic: Yes Accession: NC_000023.11:g.120077097C>T Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077097C>T Locations: - c.271G>A (NCI-TCGA:ENST00000371402) - p.E91K (NCI-TCGA:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs2057168729 | 91 | E>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000023.11:g.120077096T>A Codon: GAA/GTA Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077096T>A Locations: - p.Glu91Val (Ensembl:ENST00000371402) - c.272A>T (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs40786 | 93 | N>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000023.11:g.120077091T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077091T>C Locations: - p.Asn93Asp (Ensembl:ENST00000371402) - c.277A>G (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
COSV65054826 | 93 | N>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.441) - SIFT: tolerated (0.33) Somatic: Yes Accession: NC_000023.11:g.120077089G>T Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077089G>T Locations: - c.279C>A (NCI-TCGA:ENST00000371402) - p.N93K (NCI-TCGA:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1603388769 | 95 | E>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.120077084T>G Codon: GAG/GCG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077084T>G Locations: - p.Glu95Ala (Ensembl:ENST00000371402) - c.284A>C (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs782130028 | 95 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.35) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.120077085C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077085C>T Locations: - p.Glu95Lys (Ensembl:ENST00000371402) - c.283G>A (Ensembl:ENST00000371402) Source type: large scale study | |||||||
rs782130028 | 95 | E>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.534) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.120077085C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077085C>G Locations: - p.Glu95Gln (Ensembl:ENST00000371402) - c.283G>C (Ensembl:ENST00000371402) Source type: large scale study | |||||||
rs1415588430 | 96 | G>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.685) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000023.11:g.120077082C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077082C>T Locations: - p.Gly96Ser (Ensembl:ENST00000371402) - c.286G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
TCGA novel | 99 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.088) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000023.11:g.120077072C>T Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077072C>T Locations: - c.296G>A (NCI-TCGA:ENST00000371402) - p.G99D (NCI-TCGA:ENST00000371402) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs782350366 | 99 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000023.11:g.120077073C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077073C>T Locations: - p.Gly99Ser (Ensembl:ENST00000371402) - c.295G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1163397537 | 100 | S>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.743) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000023.11:g.120077068G>C Codon: AGC/AGG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077068G>C Locations: - p.Ser100Arg (Ensembl:ENST00000371402) - c.300C>G (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs202022237 | 101 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.462) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000023.11:g.120077067C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077067C>G Locations: - p.Asp101His (Ensembl:ENST00000371402) - c.301G>C (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
COSV101003970 rs202022237 | 101 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.42) - PolyPhen: benign (0.001) - SIFT: tolerated (0.93) Somatic: No Population frequencies: - MAF: 0.00001312 (gnomAD) Accession: NC_000023.11:g.120077067C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077067C>T Locations: - p.D101N (NCI-TCGA:ENST00000371402) - p.Asp101Asn (Ensembl:ENST00000371402) - c.301G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1569307842 | 102 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000023.11:g.120077064C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077064C>T Locations: - p.Gly102Ser (Ensembl:ENST00000371402) - c.304G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
COSV65054813 rs782210640 | 104 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.24) - PolyPhen: benign (0.013) - SIFT: tolerated (0.33) Somatic: No Population frequencies: - MAF: 0.00004615 (gnomAD) Accession: NC_000023.11:g.120077058C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077058C>T Locations: - p.V104I (NCI-TCGA:ENST00000371402) - p.Val104Ile (Ensembl:ENST00000371402) - c.310G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
COSV101003947 | 105 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.626) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000023.11:g.120077055C>G Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077055C>G Locations: - c.313G>C (NCI-TCGA:ENST00000371402) - p.E105Q (NCI-TCGA:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996278 | 107 | S>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.437) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000023.11:g.120077048C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077048C>A Locations: - p.Ser107Ile (Ensembl:ENST00000371402) - c.320G>T (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996278 | 107 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.451) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000023.11:g.120077048C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077048C>T Locations: - p.Ser107Asn (Ensembl:ENST00000371402) - c.320G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
COSV101003940 rs2057168368 | 108 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: tolerated (0.41) - PolyPhen: benign (0.068) - SIFT: tolerated (0.52) Somatic: Yes Accession: NC_000023.11:g.120077046C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077046C>T Locations: - p.D108N (NCI-TCGA:ENST00000371402) - p.Asp108Asn (Ensembl:ENST00000371402) - c.322G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs2057168368 | 108 | D>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.343) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000023.11:g.120077046C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077046C>A Locations: - p.Asp108Tyr (Ensembl:ENST00000371402) - c.322G>T (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1402274192 | 109 | Q>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.120077043G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077043G>A Locations: - p.Gln109Ter (Ensembl:ENST00000371402) - c.325C>T (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1291899361 | 110 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000023.11:g.120077039C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077039C>T Locations: - p.Ser110Asn (Ensembl:ENST00000371402) - c.329G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs2057168235 | 111 | E>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000023.11:g.120077035C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077035C>G Locations: - p.Glu111Asp (Ensembl:ENST00000371402) - c.333G>C (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs2057168257 | 111 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000023.11:g.120077036T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077036T>C Locations: - p.Glu111Gly (Ensembl:ENST00000371402) - c.332A>G (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996272 | 111 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.105) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000023.11:g.120077037C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077037C>T Locations: - p.Glu111Lys (Ensembl:ENST00000371402) - c.331G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
COSV101003945 COSV101003972 | 117 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.120077019G>A Consequence type: stop gained Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077019G>A Locations: - c.349C>T (NCI-TCGA:ENST00000371402) - p.Q117* (NCI-TCGA:ENST00000371402) Source type: large scale study Cross-references: | |||||||
COSV101003945 COSV101003972 | 117 | Q>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.611) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000023.11:g.120077019G>T Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077019G>T Locations: - c.349C>A (NCI-TCGA:ENST00000371402) - p.Q117K (NCI-TCGA:ENST00000371402) Source type: large scale study Cross-references: | |||||||
COSV101003963 | 117 | Q>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.705) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000023.11:g.120077018T>C Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077018T>C Locations: - c.350A>G (NCI-TCGA:ENST00000371402) - p.Q117R (NCI-TCGA:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs782661757 | 119 | S>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000023.11:g.120077012G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077012G>A Locations: - p.Ser119Leu (Ensembl:ENST00000371402) - c.356C>T (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs2057168146 | 120 | R>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000023.11:g.120077010G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077010G>A Locations: - p.Arg120Cys (Ensembl:ENST00000371402) - c.358C>T (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs782230246 | 120 | R>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.138) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000023.11:g.120077009C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077009C>T Locations: - p.Arg120His (Ensembl:ENST00000371402) - c.359G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996266 | 121 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000023.11:g.120077007G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077007G>A Locations: - p.Pro121Ser (Ensembl:ENST00000371402) - c.361C>T (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs782615289 | 122 | Q>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000023.11:g.120077004G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120077004G>C Locations: - p.Gln122Glu (Ensembl:ENST00000371402) - c.364C>G (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1348765858 | 124 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000023.11:g.120076998C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076998C>T Locations: - p.Ala124Thr (Ensembl:ENST00000371402) - c.370G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1204824737 | 125 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000023.11:g.120076994A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076994A>G Locations: - p.Val125Ala (Ensembl:ENST00000371402) - c.374T>C (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996263 | 125 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000023.11:g.120076995C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076995C>T Locations: - p.Val125Ile (Ensembl:ENST00000371402) - c.373G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996261 | 126 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.272) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000023.11:g.120076992C>G, NC_000023.11:g.120076992C>T Codon: GGG/CGG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076992C>G, NC_000023.11:g.120076992C>T Locations: - p.Gly126Arg (Ensembl:ENST00000371402) - c.376G>C (Ensembl:ENST00000371402) - c.376G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1218537331 | 127 | G>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000023.11:g.120076988C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076988C>T Locations: - p.Gly127Glu (Ensembl:ENST00000371402) - c.380G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
TCGA novel | 128 | L>W | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000023.11:g.120076987del Consequence type: frameshift Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076987del Locations: - c.381del (NCI-TCGA:ENST00000371402) - p.L128Wfs*44 (NCI-TCGA:ENST00000371402) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs782536889 | 129 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000023.11:g.120076983C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076983C>T Locations: - p.Glu129Lys (Ensembl:ENST00000371402) - c.385G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs781878787 | 133 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000023.11:g.120076971C>A Codon: GCG/TCG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076971C>A Locations: - p.Ala133Ser (Ensembl:ENST00000371402) - c.397G>T (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs781878787 | 133 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.14) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000023.11:g.120076971C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076971C>T Locations: - p.Ala133Thr (Ensembl:ENST00000371402) - c.397G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs782757779 | 133 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.058) - SIFT: tolerated (0.54) - PolyPhen: benign (0.057) - SIFT: tolerated (0.24) Somatic: No Population frequencies: - MAF: 0.00003936 (gnomAD) Accession: NC_000023.11:g.120076970G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076970G>A Locations: - p.A133V (NCI-TCGA:ENST00000371402) - p.Ala133Val (Ensembl:ENST00000371402) - c.398C>T (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996249 | 134 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.120076968G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076968G>A Locations: - p.Gln134Ter (Ensembl:ENST00000371402) - c.400C>T (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs2057167551 | 134 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.120076967T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076967T>C Locations: - p.Gln134Arg (Ensembl:ENST00000371402) - c.401A>G (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs781948448 | 135 | Q>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.120076964T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076964T>G Locations: - p.Gln135Pro (Ensembl:ENST00000371402) - c.404A>C (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996233 | 140 | A>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000023.11:g.120076950C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076950C>G Locations: - p.Ala140Pro (Ensembl:ENST00000371402) - c.418G>C (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs782030006 | 145 | Q>E | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.120076935G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076935G>C Locations: - p.Gln145Glu (Ensembl:ENST00000371402) - c.433C>G (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs782402276 | 145 | Q>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.120076934T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076934T>G Locations: - p.Gln145Pro (Ensembl:ENST00000371402) - c.434A>C (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1421840156 | 147 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000023.11:g.120076928T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076928T>C Locations: - p.Gln147Arg (Ensembl:ENST00000371402) - c.440A>G (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
COSV65054883 rs782259815 | 148 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.01) - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.00007226 (gnomAD) Accession: NC_000023.11:g.120076926C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076926C>T Locations: - p.E148K (NCI-TCGA:ENST00000371402) - p.Glu148Lys (Ensembl:ENST00000371402) - c.442G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs40785 | 151 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000023.11:g.120076917A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076917A>G Locations: - p.Cys151Arg (Ensembl:ENST00000371402) - c.451T>C (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996220 | 151 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000023.11:g.120076916C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076916C>T Locations: - p.Cys151Tyr (Ensembl:ENST00000371402) - c.452G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996219 | 152 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.116) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000023.11:g.120076914T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076914T>C Locations: - p.Ile152Val (Ensembl:ENST00000371402) - c.454A>G (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs2057167177 | 153 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.632) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.120076911A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076911A>G Locations: - p.Phe153Leu (Ensembl:ENST00000371402) - c.457T>C (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs781983826 | 155 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.08) - PolyPhen: benign (0.011) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.120076905G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076905G>A Locations: - p.R155C (NCI-TCGA:ENST00000371402) - p.Arg155Cys (Ensembl:ENST00000371402) - c.463C>T (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1397161999 | 155 | R>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000023.11:g.120076904C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076904C>T Locations: - p.Arg155His (Ensembl:ENST00000371402) - c.464G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1397161999 | 155 | R>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.588) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.120076904C>G Codon: CGC/CCC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076904C>G Locations: - p.Arg155Pro (Ensembl:ENST00000371402) - c.464G>C (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996215 | 156 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000023.11:g.120076900C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076900C>A Locations: - p.Glu156Asp (Ensembl:ENST00000371402) - c.468G>T (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs782342595 | 156 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.120076902C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076902C>T Locations: - p.Glu156Lys (Ensembl:ENST00000371402) - c.466G>A (Ensembl:ENST00000371402) Source type: large scale study | |||||||
rs782342595 | 156 | E>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000023.11:g.120076902C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076902C>G Locations: - p.Glu156Gln (Ensembl:ENST00000371402) - c.466G>C (Ensembl:ENST00000371402) Source type: large scale study | |||||||
TCGA novel | 157 | Q>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.543) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000023.11:g.120076899G>T Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076899G>T Locations: - c.469C>A (NCI-TCGA:ENST00000371402) - p.Q157K (NCI-TCGA:ENST00000371402) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1603388727 | 158 | F>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.875) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.120076895A>C Codon: TTC/TGC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076895A>C Locations: - p.Phe158Cys (Ensembl:ENST00000371402) - c.473T>G (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1734158210 | 159 | P>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.120076892G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076892G>T Locations: - p.Pro159His (Ensembl:ENST00000371402) - c.476C>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996211 | 160 | S>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.422) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000023.11:g.120076889C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076889C>G Locations: - p.Ser160Thr (Ensembl:ENST00000371402) - c.479G>C (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1569307756 | 164 | R>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.84) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.120076877C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076877C>A Locations: - p.Arg164Leu (Ensembl:ENST00000371402) - c.491G>T (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1569307756 | 164 | R>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.120076877C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120076877C>T Locations: - p.Arg164Gln (Ensembl:ENST00000371402) - c.491G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
TCGA novel | 165 | R>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000023.11:g.120075943C>T Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120075943C>T Locations: - c.494G>A (NCI-TCGA:ENST00000371402) - p.R165K (NCI-TCGA:ENST00000371402) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs782796705 | 169 | R>G | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000023.11:g.120075932T>C Codon: AGA/GGA Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120075932T>C Locations: - p.Arg169Gly (Ensembl:ENST00000371402) - c.505A>G (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs2057164236 | 171 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000023.11:g.120075924C>T, NC_000023.11:g.120075924C>G Codon: ATG/ATA Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120075924C>T, NC_000023.11:g.120075924C>G Locations: - p.Met171Ile (Ensembl:ENST00000371402) - c.513G>A (Ensembl:ENST00000371402) - c.513G>C (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
COSV65054848 rs2057164166 | 175 | E>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.964) - SIFT: deleterious (0.01) - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000023.11:g.120075913T>G Codon: GAA/GCA Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120075913T>G Locations: - p.E175A (NCI-TCGA:ENST00000371402) - p.Glu175Ala (Ensembl:ENST00000371402) - c.524A>C (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996137 | 175 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.120075914C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120075914C>T Locations: - p.Glu175Lys (Ensembl:ENST00000371402) - c.523G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
VAR_078302 rs3764830 | 176 | L>F | found in infertile men; uncertain significance (UniProt) | Variant of uncertain significance (UniProt) | UniProt 1000Genomes ESP ExAC dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000023.11:g.120075911G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120075911G>A Locations: - p.Leu176Phe (UniProt:P0C7M4) Source type: mixed Cross-references: | |||||||
rs1157142630 | 177 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: tolerated (0.9) Somatic: No Accession: NC_000023.11:g.120075908C>A Codon: GCA/TCA Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120075908C>A Locations: - p.Ala177Ser (Ensembl:ENST00000371402) - c.529G>T (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1157142630 | 177 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.098) - SIFT: tolerated (0.37) - PolyPhen: benign (0.096) - SIFT: tolerated (0.92) Somatic: No Accession: NC_000023.11:g.120075908C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120075908C>T Locations: - p.A177T (NCI-TCGA:ENST00000371402) - p.Ala177Thr (Ensembl:ENST00000371402) - c.529G>A (Ensembl:ENST00000371402) Source type: large scale study | |||||||
rs781999766 | 178 | V>G | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.120075904A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120075904A>C Locations: - p.Val178Gly (Ensembl:ENST00000371402) - c.533T>G (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1555996133 | 178 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.120075905C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120075905C>G Locations: - p.Val178Leu (Ensembl:ENST00000371402) - c.532G>C (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs2057164033 | 179 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.231) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.120075901T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120075901T>C Locations: - p.Gln179Arg (Ensembl:ENST00000371402) - c.536A>G (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs2057153490 | 205 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000023.11:g.120072768C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120072768C>T Locations: - p.Met205Ile (Ensembl:ENST00000371402) - c.615G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs2057153509 | 205 | M>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.129) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.120072769A>C Codon: ATG/AGG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120072769A>C Locations: - p.Met205Arg (Ensembl:ENST00000371402) - c.614T>G (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs782385544 | 209 | Q>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000023.11:g.120072758G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120072758G>C Locations: - p.Gln209Glu (Ensembl:ENST00000371402) - c.625C>G (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1603388459 | 214 | T>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.436) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000023.11:g.120072742G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120072742G>T Locations: - p.Thr214Asn (Ensembl:ENST00000371402) - c.641C>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1251536658 | 220 | T>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000023.11:g.120072724G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120072724G>A Locations: - p.Thr220Met (Ensembl:ENST00000371402) - c.659C>T (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1603388458 | 226 | S>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.151) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000023.11:g.120072706C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120072706C>T Locations: - p.Ser226Asn (Ensembl:ENST00000371402) - c.677G>A (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
VAR_078303 rs2057153314 | 227 | G>R | found in infertile men; uncertain significance; decreased induction of target genes expression (UniProt) | Variant of uncertain significance (UniProt) | UniProt Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000023.11:g.120072704C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120072704C>T Locations: - p.Gly227Arg (UniProt:P0C7M4) Source type: mixed | |||||||
rs2057153286 | 231 | D>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000023.11:g.120072691T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120072691T>A Locations: - p.Asp231Val (Ensembl:ENST00000371402) - c.692A>T (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs2057153241 | 234 | W>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.802) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.120072683A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120072683A>G Locations: - p.Trp234Arg (Ensembl:ENST00000371402) - c.700T>C (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
VAR_078304 rs782251394 | 235 | D>G | found in infertile men; uncertain significance (UniProt) | Variant of uncertain significance (UniProt) | UniProt ExAC dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000023.11:g.120072679T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120072679T>C Locations: - p.Asp235Gly (UniProt:P0C7M4) Source type: mixed | |||||||
rs1555995812 | 252 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.120072628G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120072628G>A Locations: - p.Pro252Leu (Ensembl:ENST00000371402) - c.755C>T (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1268794396 | 263 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000023.11:g.120072595G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120072595G>A Locations: - p.Pro263Leu (Ensembl:ENST00000371402) - c.788C>T (Ensembl:ENST00000371402) Source type: large scale study Cross-references: | |||||||
rs1490670273 | 274 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000023.11:g.120072563G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: Xq24 Genomic location: NC_000023.11:g.120072563G>A Locations: - p.Pro274Ser (Ensembl:ENST00000371402) - c.820C>T (Ensembl:ENST00000371402) Source type: large scale study Cross-references: |