Q9HAI6 · TASL_HUMAN
- ProteinTLR adapter interacting with SLC15A4 on the lysosome
- GeneTASL
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids301 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
TCGA novel | 4 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.30560346C>T Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560346C>T Locations: - c.10G>A (NCI-TCGA:ENST00000378962) - p.E4K (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1182644231 | 5 | G>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.098) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000023.11:g.30560342C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560342C>G Locations: - p.Gly5Ala (Ensembl:ENST00000378962) - c.14G>C (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1182644231 | 5 | G>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.836) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.30560342C>A Codon: GGG/GTG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560342C>A Locations: - p.Gly5Val (Ensembl:ENST00000378962) - c.14G>T (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1930400684 | 7 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.30560337G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560337G>C Locations: - p.Leu7Val (Ensembl:ENST00000378962) - c.19C>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV66762668 rs1426847998 | 8 | S>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.141) - SIFT: tolerated (0.33) - PolyPhen: benign (0.066) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000023.11:g.30560334T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560334T>C Locations: - p.S8G (NCI-TCGA:ENST00000378962) - p.Ser8Gly (Ensembl:ENST00000378962) - c.22A>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
TCGA novel | 9 | G>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.30560331C>A Consequence type: stop gained Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560331C>A Locations: - c.25G>T (NCI-TCGA:ENST00000378962) - p.G9* (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV100973344 rs1391027079 | 11 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.16) - PolyPhen: benign (0) - SIFT: tolerated (0.41) Somatic: No Population frequencies: - MAF: 0.000005882 (gnomAD) Accession: NC_000023.11:g.30560325C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560325C>G Locations: - p.E11Q (NCI-TCGA:ENST00000378962) - p.Glu11Gln (Ensembl:ENST00000378962) - c.31G>C (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs200141323 | 15 | D>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.772) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.30560312T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560312T>C Locations: - p.Asp15Gly (Ensembl:ENST00000378962) - c.44A>G (Ensembl:ENST00000378962) Source type: large scale study | |||||||
rs1930400366 | 16 | I>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.471) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000023.11:g.30560308G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560308G>C Locations: - p.Ile16Met (Ensembl:ENST00000378962) - c.48C>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs751809110 | 17 | H>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000023.11:g.30560307G>T Codon: CAC/AAC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560307G>T Locations: - p.His17Asn (Ensembl:ENST00000378962) - c.49C>A (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs764959110 | 19 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.93) Somatic: No Accession: NC_000023.11:g.30560300C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560300C>T Locations: - p.Ser19Asn (Ensembl:ENST00000378962) - c.56G>A (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1427059996 | 22 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.139) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000023.11:g.30560291G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560291G>A Locations: - p.Ser22Phe (Ensembl:ENST00000378962) - c.65C>T (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1390730226 | 22 | S>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000023.11:g.30560292A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560292A>G Locations: - p.Ser22Pro (Ensembl:ENST00000378962) - c.64T>C (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1434017250 | 23 | Y>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000023.11:g.30560289A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560289A>G Locations: - p.Tyr23His (Ensembl:ENST00000378962) - c.67T>C (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1930400023 | 24 | N>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000023.11:g.30560286T>G Codon: AAT/CAT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560286T>G Locations: - p.Asn24His (Ensembl:ENST00000378962) - c.70A>C (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs761567498 | 24 | N>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.058) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000023.11:g.30560284A>C Codon: AAT/AAG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560284A>C Locations: - p.Asn24Lys (Ensembl:ENST00000378962) - c.72T>G (Ensembl:ENST00000378962) Source type: large scale study | |||||||
rs1930399799 | 25 | E>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.567) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000023.11:g.30560281C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560281C>A Locations: - p.Glu25Asp (Ensembl:ENST00000378962) - c.75G>T (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1470415199 | 25 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000023.11:g.30560283C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560283C>T Locations: - p.Glu25Lys (Ensembl:ENST00000378962) - c.73G>A (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
TCGA novel | 26 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.366) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000023.11:g.30560278C>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560278C>A Locations: - c.78G>T (NCI-TCGA:ENST00000378962) - p.Q26H (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV100973217 | 26 | Q>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.26) Somatic: Yes Accession: NC_000023.11:g.30560279T>G Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560279T>G Locations: - c.77A>C (NCI-TCGA:ENST00000378962) - p.Q26P (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs776478881 | 27 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.895) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000023.11:g.30560277C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560277C>T Locations: - p.Val27Met (Ensembl:ENST00000378962) - c.79G>A (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs926750440 | 28 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000023.11:g.30560274C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560274C>A Locations: - p.Ala28Ser (Ensembl:ENST00000378962) - c.82G>T (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1448361608 | 30 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.13) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.30560267T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560267T>C Locations: - p.Glu30Gly (Ensembl:ENST00000378962) - c.89A>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV66763212 | 30 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.33) Somatic: Yes Accession: NC_000023.11:g.30560268C>T Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560268C>T Locations: - c.88G>A (NCI-TCGA:ENST00000378962) - p.E30K (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1002292364 | 31 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.76) Somatic: No Accession: NC_000023.11:g.30560265T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560265T>C Locations: - p.Lys31Glu (Ensembl:ENST00000378962) - c.91A>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs181344532 | 31 | K>N | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000023.11:g.30560263C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560263C>G Locations: - p.Lys31Asn (Ensembl:ENST00000378962) - c.93G>C (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV66763448 rs1930399548 | 31 | K>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.4) - PolyPhen: benign (0) - SIFT: tolerated (0.49) Somatic: Yes Accession: NC_000023.11:g.30560264T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560264T>C Locations: - p.K31R (NCI-TCGA:ENST00000378962) - p.Lys31Arg (Ensembl:ENST00000378962) - c.92A>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs761685231 | 32 | E>A | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000023.11:g.30560261T>G Codon: GAA/GCA Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560261T>G Locations: - p.Glu32Ala (Ensembl:ENST00000378962) - c.95A>C (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs761685231 | 32 | E>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000023.11:g.30560261T>A Codon: GAA/GTA Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560261T>A Locations: - p.Glu32Val (Ensembl:ENST00000378962) - c.95A>T (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV100973345 COSV104430862 | 33 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.30560259C>A Consequence type: stop gained Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560259C>A Locations: - c.97G>T (NCI-TCGA:ENST00000378962) - p.E33* (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs774999374 | 33 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000023.11:g.30560257C>G, NC_000023.11:g.30560257C>A Codon: GAG/GAC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560257C>G, NC_000023.11:g.30560257C>A Locations: - p.Glu33Asp (Ensembl:ENST00000378962) - c.99G>C (Ensembl:ENST00000378962) - c.99G>T (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV100973345 COSV104430862 | 33 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000023.11:g.30560259C>T Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560259C>T Locations: - c.97G>A (NCI-TCGA:ENST00000378962) - p.E33K (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1295601531 | 34 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000023.11:g.30560256C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560256C>T Locations: - p.Glu34Lys (Ensembl:ENST00000378962) - c.100G>A (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1204949812 | 35 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000023.11:g.30560253T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560253T>C Locations: - p.Thr35Ala (Ensembl:ENST00000378962) - c.103A>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1930399083 | 35 | T>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000023.11:g.30560252G>T Codon: ACA/AAA Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560252G>T Locations: - p.Thr35Lys (Ensembl:ENST00000378962) - c.104C>A (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1234194707 | 38 | V>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.73) Somatic: No Accession: NC_000023.11:g.30560243A>G Codon: GTT/GCT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560243A>G Locations: - p.Val38Ala (Ensembl:ENST00000378962) - c.113T>C (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs141385060 | 38 | V>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.85) Somatic: No Accession: NC_000023.11:g.30560244C>G Codon: GTT/CTT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560244C>G Locations: - p.Val38Leu (Ensembl:ENST00000378962) - c.112G>C (Ensembl:ENST00000378962) Source type: large scale study | |||||||
rs1339841961 | 40 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000023.11:g.30560237G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560237G>A Locations: - p.Thr40Ile (Ensembl:ENST00000378962) - c.119C>T (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1046439655 | 41 | L>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000023.11:g.30560235G>T Codon: CTT/ATT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560235G>T Locations: - p.Leu41Ile (Ensembl:ENST00000378962) - c.121C>A (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV66762624 | 42 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.192) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000023.11:g.30560231G>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560231G>A Locations: - c.125C>T (NCI-TCGA:ENST00000378962) - p.S42F (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1009535822 | 43 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000023.11:g.30560228T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560228T>C Locations: - p.Tyr43Cys (Ensembl:ENST00000378962) - c.128A>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1930398458 | 45 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.543) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.30560222G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560222G>C Locations: - p.Ser45Cys (Ensembl:ENST00000378962) - c.134C>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs774125423 | 47 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.312) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000023.11:g.30560215A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560215A>T Locations: - p.Asp47Glu (Ensembl:ENST00000378962) - c.141T>A (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs770745577 | 52 | R>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000023.11:g.30560201C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560201C>T Locations: - p.Arg52Lys (Ensembl:ENST00000378962) - c.155G>A (Ensembl:ENST00000378962) Source type: large scale study | |||||||
rs1383731392 | 54 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000023.11:g.30560196G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560196G>A Locations: - p.Leu54Phe (Ensembl:ENST00000378962) - c.160C>T (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs768160860 | 56 | V>M | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.574) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000023.11:g.30560190C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560190C>T Locations: - p.Val56Met (Ensembl:ENST00000378962) - c.166G>A (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
TCGA novel | 58 | C>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.30560182G>T Consequence type: stop gained Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560182G>T Locations: - c.174C>A (NCI-TCGA:ENST00000378962) - p.C58* (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV100973206 | 58 | C>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.61) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000023.11:g.30560184A>C Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560184A>C Locations: - c.172T>G (NCI-TCGA:ENST00000378962) - p.C58G (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs2147082452 | 60 | S>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.30560177G>C Codon: TCA/TGA Consequence type: stop gained Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560177G>C Locations: - p.Ser60Ter (Ensembl:ENST00000378962) - c.179C>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
TCGA novel | 60 | S>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.30560178A>G Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560178A>G Locations: - c.178T>C (NCI-TCGA:ENST00000378962) - p.S60P (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs756582268 | 62 | G>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.30560171C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560171C>G Locations: - p.Gly62Ala (Ensembl:ENST00000378962) - c.185G>C (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs748604114 | 64 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000023.11:g.30560164A>C Codon: TTT/TTG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560164A>C Locations: - p.Phe64Leu (Ensembl:ENST00000378962) - c.192T>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1248720806 | 65 | I>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.885) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000023.11:g.30560163T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560163T>A Locations: - p.Ile65Phe (Ensembl:ENST00000378962) - c.193A>T (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV100973348 rs1930397427 | 66 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.808) - SIFT: tolerated (0.06) - PolyPhen: probably damaging (0.926) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000023.11:g.30560159G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560159G>C Locations: - p.S66C (NCI-TCGA:ENST00000378962) - p.Ser66Cys (Ensembl:ENST00000378962) - c.197C>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1361066983 | 69 | H>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.76) Somatic: No Accession: NC_000023.11:g.30560150T>A Codon: CAT/CTT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560150T>A Locations: - p.His69Leu (Ensembl:ENST00000378962) - c.206A>T (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1409971005 | 70 | S>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.30560147G>A Codon: TCA/TTA Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560147G>A Locations: - p.Ser70Leu (Ensembl:ENST00000378962) - c.209C>T (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1156520654 | 71 | R>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000023.11:g.30560144C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560144C>T Locations: - p.Arg71Lys (Ensembl:ENST00000378962) - c.212G>A (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1156520654 | 71 | R>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.436) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000023.11:g.30560144C>G Codon: AGA/ACA Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560144C>G Locations: - p.Arg71Thr (Ensembl:ENST00000378962) - c.212G>C (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1385416393 | 72 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000023.11:g.30560140C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560140C>G Locations: - p.Glu72Asp (Ensembl:ENST00000378962) - c.216G>C (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1438704942 | 72 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000023.11:g.30560141T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560141T>C Locations: - p.Glu72Gly (Ensembl:ENST00000378962) - c.215A>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs373780978 | 73 | S>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.48) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000023.11:g.30560137G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560137G>T Locations: - p.Ser73Arg (Ensembl:ENST00000378962) - c.219C>A (Ensembl:ENST00000378962) Source type: large scale study | |||||||
TCGA novel | 74 | Q>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000023.11:g.30560135T>C Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560135T>C Locations: - c.221A>G (NCI-TCGA:ENST00000378962) - p.Q74R (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
RCV001795793 rs150122685 | 75 | H>N | Likely benign (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.53) Somatic: No Population frequencies: - MAF: 0.00062 (ClinVar) Accession: NC_000023.11:g.30560133G>T Codon: CAT/AAT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560133G>T Locations: - p.His75Asn (Ensembl:ENST00000378962) - c.223C>A (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1569304070 | 75 | H>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000023.11:g.30560132T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560132T>C Locations: - p.His75Arg (Ensembl:ENST00000378962) - c.224A>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
TCGA novel | 76 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.163) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000023.11:g.30560129C>T Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560129C>T Locations: - c.227G>A (NCI-TCGA:ENST00000378962) - p.S76N (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV100973291 | 77 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000023.11:g.30560126C>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560126C>A Locations: - c.230G>T (NCI-TCGA:ENST00000378962) - p.R77I (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV66763407 | 80 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.299) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000023.11:g.30560117C>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560117C>A Locations: - c.239G>T (NCI-TCGA:ENST00000378962) - p.R80I (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs751682389 | 81 | V>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000023.11:g.30560115C>G Codon: GTC/CTC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560115C>G Locations: - p.Val81Leu (Ensembl:ENST00000378962) - c.241G>C (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs140764539 | 82 | T>K | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000023.11:g.30560111G>T Codon: ACA/AAA Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560111G>T Locations: - p.Thr82Lys (Ensembl:ENST00000378962) - c.245C>A (Ensembl:ENST00000378962) Source type: large scale study | |||||||
rs753576613 | 83 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000023.11:g.30560108A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560108A>G Locations: - p.Val83Ala (Ensembl:ENST00000378962) - c.248T>C (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
TCGA novel | 85 | Q>R | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000023.11:g.30560103del Consequence type: frameshift Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560103del Locations: - c.253del (NCI-TCGA:ENST00000378962) - p.Q85Rfs*50 (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV100973270 COSV66763402 | 86 | T>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.81) Somatic: No Accession: NC_000023.11:g.30560100T>C Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560100T>C Locations: - c.256A>G (NCI-TCGA:ENST00000378962) - p.T86A (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV100973270 COSV66763402 | 86 | T>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000023.11:g.30560100T>G Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560100T>G Locations: - c.256A>C (NCI-TCGA:ENST00000378962) - p.T86P (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1216285165 | 88 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.71) Somatic: No Accession: NC_000023.11:g.30560094G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560094G>A Locations: - p.Pro88Ser (Ensembl:ENST00000378962) - c.262C>T (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1216285165 | 88 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000023.11:g.30560094G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560094G>T Locations: - p.Pro88Thr (Ensembl:ENST00000378962) - c.262C>A (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1360480735 | 89 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.846) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000023.11:g.30560090T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560090T>C Locations: - p.Asn89Ser (Ensembl:ENST00000378962) - c.266A>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
TCGA novel | 90 | P>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.30560087G>T Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560087G>T Locations: - c.269C>A (NCI-TCGA:ENST00000378962) - p.P90H (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs752601692 | 91 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.111) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000023.11:g.30560084A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560084A>G Locations: - p.Val91Ala (Ensembl:ENST00000378962) - c.272T>C (Ensembl:ENST00000378962) Source type: large scale study | |||||||
rs762713962 | 91 | V>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000023.11:g.30560085C>G, NC_000023.11:g.30560085C>A Codon: GTG/CTG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560085C>G, NC_000023.11:g.30560085C>A Locations: - p.Val91Leu (Ensembl:ENST00000378962) - c.271G>C (Ensembl:ENST00000378962) - c.271G>T (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs767540673 COSV100973286 | 92 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed gnomAD NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.68) - PolyPhen: benign (0.011) - SIFT: tolerated (0.72) Somatic: Yes Accession: NC_000023.11:g.30560082A>G, NC_000023.11:g.30560080A>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560082A>G, NC_000023.11:g.30560080A>C Locations: - p.Phe92Leu (Ensembl:ENST00000378962) - c.274T>C (Ensembl:ENST00000378962) - c.276T>G (NCI-TCGA:ENST00000378962) - p.F92L (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1930395192 | 94 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.83) Somatic: No Accession: NC_000023.11:g.30560074G>C Codon: AGC/AGG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560074G>C Locations: - p.Ser94Arg (Ensembl:ENST00000378962) - c.282C>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs950393150 | 96 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000023.11:g.30560070T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560070T>C Locations: - p.Asn96Asp (Ensembl:ENST00000378962) - c.286A>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1930394887 | 97 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.058) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000023.11:g.30560065C>G Codon: TTG/TTC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560065C>G Locations: - p.Leu97Phe (Ensembl:ENST00000378962) - c.291G>C (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs758937552 | 97 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.30560067A>C Codon: TTG/GTG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560067A>C Locations: - p.Leu97Val (Ensembl:ENST00000378962) - c.289T>G (Ensembl:ENST00000378962) Source type: large scale study | |||||||
TCGA novel | 98 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.64) Somatic: No Accession: NC_000023.11:g.30560064C>T Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560064C>T Locations: - c.292G>A (NCI-TCGA:ENST00000378962) - p.A98T (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1930394643 | 100 | V>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.089) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000023.11:g.30560057A>C Codon: GTT/GGT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560057A>C Locations: - p.Val100Gly (Ensembl:ENST00000378962) - c.299T>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1315983601 | 103 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.228) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000023.11:g.30560049A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560049A>G Locations: - p.Cys103Arg (Ensembl:ENST00000378962) - c.307T>C (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV66762548 | 104 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.165) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000023.11:g.30560045C>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560045C>A Locations: - c.311G>T (NCI-TCGA:ENST00000378962) - p.R104I (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs770694258 | 105 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.98) Somatic: No Accession: NC_000023.11:g.30560042T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560042T>C Locations: - p.Asp105Gly (Ensembl:ENST00000378962) - c.314A>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV66762434 | 105 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.23) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000023.11:g.30560043C>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560043C>A Locations: - c.313G>T (NCI-TCGA:ENST00000378962) - p.D105Y (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1569304043 | 106 | A>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000023.11:g.30560039G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560039G>C Locations: - p.Ala106Gly (Ensembl:ENST00000378962) - c.317C>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1569304043 | 106 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.30560039G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560039G>A Locations: - p.Ala106Val (Ensembl:ENST00000378962) - c.317C>T (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs762706999 | 107 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000023.11:g.30560036C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560036C>T Locations: - p.Ser107Asn (Ensembl:ENST00000378962) - c.320G>A (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs773641205 | 108 | R>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.98) Somatic: No Accession: NC_000023.11:g.30560033C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560033C>T Locations: - p.Arg108Lys (Ensembl:ENST00000378962) - c.323G>A (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
TCGA novel rs1930393611 | 109 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (0.57) - PolyPhen: benign (0.024) - SIFT: tolerated (0.73) Somatic: No Accession: NC_000023.11:g.30560029C>A, NC_000023.11:g.30560029C>G Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560029C>A, NC_000023.11:g.30560029C>G Locations: - c.327G>T (NCI-TCGA:ENST00000378962) - p.E109D (NCI-TCGA:ENST00000378962) - p.Glu109Asp (Ensembl:ENST00000378962) - c.327G>C (Ensembl:ENST00000378962) Source type: large scale study | |||||||
rs770082070 | 109 | E>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.696) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000023.11:g.30560030T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560030T>C Locations: - p.Glu109Gly (Ensembl:ENST00000378962) - c.326A>G (Ensembl:ENST00000378962) Source type: large scale study | |||||||
rs748637871 | 110 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.30560027G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560027G>C Locations: - p.Thr110Ser (Ensembl:ENST00000378962) - c.329C>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV100973202 | 114 | P>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.30560015G>T Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560015G>T Locations: - c.341C>A (NCI-TCGA:ENST00000378962) - p.P114Q (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1930393160 | 115 | S>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000023.11:g.30560013A>T Codon: TCT/ACT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560013A>T Locations: - p.Ser115Thr (Ensembl:ENST00000378962) - c.343T>A (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV66763115 | 116 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.775) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000023.11:g.30560009G>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560009G>A Locations: - c.347C>T (NCI-TCGA:ENST00000378962) - p.S116F (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1930392983 | 117 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.30560007A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560007A>G Locations: - p.Cys117Arg (Ensembl:ENST00000378962) - c.349T>C (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
TCGA novel | 119 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.36) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.30560000C>T Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30560000C>T Locations: - c.356G>A (NCI-TCGA:ENST00000378962) - p.S119N (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs150949392 | 121 | C>F | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000023.11:g.30559994C>A Codon: TGC/TTC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559994C>A Locations: - p.Cys121Phe (Ensembl:ENST00000378962) - c.362G>T (Ensembl:ENST00000378962) Source type: large scale study | |||||||
COSV100973277 | 121 | C>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.479) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000023.11:g.30559994C>T Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559994C>T Locations: - c.362G>A (NCI-TCGA:ENST00000378962) - p.C121Y (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV66762593 COSV66762618 | 122 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.30559990C>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559990C>A Locations: - c.366G>T (NCI-TCGA:ENST00000378962) - p.K122N (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
TCGA novel | 126 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.30559980C>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559980C>A Locations: - c.376G>T (NCI-TCGA:ENST00000378962) - p.D126Y (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs747080551 | 127 | L>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.30559976A>C Codon: TTA/TGA Consequence type: stop gained Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559976A>C Locations: - p.Leu127Ter (Ensembl:ENST00000378962) - c.380T>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV100973332 | 127 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.30559975T>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559975T>A Locations: - c.381A>T (NCI-TCGA:ENST00000378962) - p.L127F (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs780124541 | 130 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.30559967G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559967G>A Locations: - p.Ala130Val (Ensembl:ENST00000378962) - c.389C>T (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1930392505 | 132 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.30559961C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559961C>T Locations: - p.Gly132Asp (Ensembl:ENST00000378962) - c.395G>A (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV66762738 | 136 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.91) - SIFT: tolerated (0.14) Somatic: Yes Accession: NC_000023.11:g.30559950C>T Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559950C>T Locations: - c.406G>A (NCI-TCGA:ENST00000378962) - p.A136T (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV100973378 COSV100973382 | 139 | S>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.30559940G>T Consequence type: stop gained Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559940G>T Locations: - c.416C>A (NCI-TCGA:ENST00000378962) - p.S139* (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV100973378 COSV100973382 | 139 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000023.11:g.30559940G>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559940G>A Locations: - c.416C>T (NCI-TCGA:ENST00000378962) - p.S139L (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs753582096 | 143 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.367) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000023.11:g.30559927A>C Codon: GAT/GAG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559927A>C Locations: - p.Asp143Glu (Ensembl:ENST00000378962) - c.429T>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
TCGA novel | 143 | D>F | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000023.11:g.30559926_30559929del Consequence type: frameshift Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559926_30559929del Locations: - c.427_430del (NCI-TCGA:ENST00000378962) - p.D143Ffs*13 (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV66763157 | 143 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000023.11:g.30559929C>T Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559929C>T Locations: - c.427G>A (NCI-TCGA:ENST00000378962) - p.D143N (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV66762639 | 145 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: tolerated (0.52) Somatic: Yes Accession: NC_000023.11:g.30559923G>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559923G>A Locations: - c.433C>T (NCI-TCGA:ENST00000378962) - p.P145S (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1034307445 | 146 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000023.11:g.30559920A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559920A>G Locations: - p.Ser146Pro (Ensembl:ENST00000378962) - c.436T>C (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV100973343 COSV66762344 COSV66762529 | 146 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.30559919G>T Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559919G>T Locations: - c.437C>A (NCI-TCGA:ENST00000378962) - p.S146Y (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV66763241 | 148 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000023.11:g.30559913C>T Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559913C>T Locations: - c.443G>A (NCI-TCGA:ENST00000378962) - p.S148N (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV100973321 | 148 | S>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000023.11:g.30559912G>T Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559912G>T Locations: - c.444C>A (NCI-TCGA:ENST00000378962) - p.S148R (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs200439691 | 150 | F>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.77) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000023.11:g.30559907A>T Codon: TTT/TAT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559907A>T Locations: - p.Phe150Tyr (Ensembl:ENST00000378962) - c.449T>A (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV100973215 | 151 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000023.11:g.30559905C>A Consequence type: stop gained Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559905C>A Locations: - c.451G>T (NCI-TCGA:ENST00000378962) - p.E151* (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1364025315 | 151 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000023.11:g.30559903T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559903T>A Locations: - p.Glu151Asp (Ensembl:ENST00000378962) - c.453A>T (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1930391455 | 152 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.551) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000023.11:g.30559901T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559901T>C Locations: - p.Tyr152Cys (Ensembl:ENST00000378962) - c.455A>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV66762798 | 153 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000023.11:g.30559899C>T Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559899C>T Locations: - c.457G>A (NCI-TCGA:ENST00000378962) - p.G153S (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs746308301 | 157 | K>N | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.415) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.30559885C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559885C>G Locations: - p.Lys157Asn (Ensembl:ENST00000378962) - c.471G>C (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV66762407 | 159 | S>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.403) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000023.11:g.30559881A>T Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559881A>T Locations: - c.475T>A (NCI-TCGA:ENST00000378962) - p.S159T (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs2147082354 | 159 | S>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000023.11:g.30559880G>T Codon: TCT/TAT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559880G>T Locations: - p.Ser159Tyr (Ensembl:ENST00000378962) - c.476C>A (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs142517470 | 162 | P>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.815) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.30559871G>T Codon: CCT/CAT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559871G>T Locations: - p.Pro162His (Ensembl:ENST00000378962) - c.485C>A (Ensembl:ENST00000378962) Source type: large scale study | |||||||
rs140211928 | 164 | P>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000023.11:g.30559866G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559866G>A Locations: - p.Pro164Ser (Ensembl:ENST00000378962) - c.490C>T (Ensembl:ENST00000378962) Source type: large scale study | |||||||
rs140211928 | 164 | P>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000023.11:g.30559866G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559866G>T Locations: - p.Pro164Thr (Ensembl:ENST00000378962) - c.490C>A (Ensembl:ENST00000378962) Source type: large scale study | |||||||
COSV100973289 | 165 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.22) Somatic: Yes Accession: NC_000023.11:g.30559861C>T Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559861C>T Locations: - c.495G>A (NCI-TCGA:ENST00000378962) - p.M165I (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs918003569 | 165 | M>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.567) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.30559862A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559862A>G Locations: - p.Met165Thr (Ensembl:ENST00000378962) - c.494T>C (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1478280088 | 166 | E>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000023.11:g.30559858C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559858C>A Locations: - p.Glu166Asp (Ensembl:ENST00000378962) - c.498G>T (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1196592880 | 167 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.269) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.30559856T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559856T>C Locations: - p.Asp167Gly (Ensembl:ENST00000378962) - c.500A>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV66762663 | 168 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.912) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000023.11:g.30559853G>C Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559853G>C Locations: - c.503C>G (NCI-TCGA:ENST00000378962) - p.S168C (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs772758905 | 171 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000023.11:g.30559844G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559844G>A Locations: - p.Thr171Ile (Ensembl:ENST00000378962) - c.512C>T (Ensembl:ENST00000378962) Source type: large scale study | |||||||
rs772758905 | 171 | T>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.199) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000023.11:g.30559844G>T Codon: ACT/AAT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559844G>T Locations: - p.Thr171Asn (Ensembl:ENST00000378962) - c.512C>A (Ensembl:ENST00000378962) Source type: large scale study | |||||||
rs2147082338 | 172 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000023.11:g.30559840C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559840C>A Locations: - p.Gln172His (Ensembl:ENST00000378962) - c.516G>T (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV100973276 | 172 | Q>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated (0.93) Somatic: Yes Accession: NC_000023.11:g.30559842G>T Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559842G>T Locations: - c.514C>A (NCI-TCGA:ENST00000378962) - p.Q172K (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1930390229 | 173 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000023.11:g.30559838G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559838G>A Locations: - p.Pro173Leu (Ensembl:ENST00000378962) - c.518C>T (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs992612456 | 175 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000023.11:g.30559831G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559831G>T Locations: - p.Asp175Glu (Ensembl:ENST00000378962) - c.525C>A (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV100973298 rs369573227 | 177 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.71) - PolyPhen: benign (0.001) - SIFT: tolerated (0.64) Somatic: No Population frequencies: - MAF: 0.00001113 (gnomAD) Accession: NC_000023.11:g.30559827G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559827G>A Locations: - p.P177S (NCI-TCGA:ENST00000378962) - p.Pro177Ser (Ensembl:ENST00000378962) - c.529C>T (Ensembl:ENST00000378962) Source type: large scale study | |||||||
rs1420545183 | 181 | I>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000023.11:g.30559815T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559815T>A Locations: - p.Ile181Phe (Ensembl:ENST00000378962) - c.541A>T (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs762083306 | 181 | I>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.87) Somatic: No Accession: NC_000023.11:g.30559814A>C Codon: ATC/AGC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559814A>C Locations: - p.Ile181Ser (Ensembl:ENST00000378962) - c.542T>G (Ensembl:ENST00000378962) Source type: large scale study | |||||||
rs1420545183 | 181 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.99) Somatic: No Accession: NC_000023.11:g.30559815T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559815T>C Locations: - p.Ile181Val (Ensembl:ENST00000378962) - c.541A>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs777114441 | 183 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000023.11:g.30559808C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559808C>T Locations: - p.Arg183Gln (Ensembl:ENST00000378962) - c.548G>A (Ensembl:ENST00000378962) Source type: large scale study | |||||||
TCGA novel rs1930389665 | 183 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA TOPMed | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.629) - SIFT: deleterious (0.03) - PolyPhen: benign (0.427) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.30559809G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559809G>A Locations: - p.R183W (NCI-TCGA:ENST00000378962) - p.Arg183Trp (Ensembl:ENST00000378962) - c.547C>T (Ensembl:ENST00000378962) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV100973323 | 184 | Y>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000023.11:g.30559804G>T, NC_000023.11:g.30559804G>C Consequence type: stop gained Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559804G>T, NC_000023.11:g.30559804G>C Locations: - c.552C>A (NCI-TCGA:ENST00000378962) - p.Y184* (NCI-TCGA:ENST00000378962) - c.552C>G (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
TCGA novel | 186 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000023.11:g.30559799G>C Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559799G>C Locations: - c.557C>G (NCI-TCGA:ENST00000378962) - p.S186C (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs747522617 | 187 | Y>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.30559796T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559796T>C Locations: - p.Tyr187Cys (Ensembl:ENST00000378962) - c.560A>G (Ensembl:ENST00000378962) Source type: large scale study | |||||||
rs747522617 | 187 | Y>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.659) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000023.11:g.30559796T>A Codon: TAT/TTT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559796T>A Locations: - p.Tyr187Phe (Ensembl:ENST00000378962) - c.560A>T (Ensembl:ENST00000378962) Source type: large scale study | |||||||
rs868775173 | 188 | W>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.30559792C>A Codon: TGG/TGT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559792C>A Locations: - p.Trp188Cys (Ensembl:ENST00000378962) - c.564G>T (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV66763378 | 189 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.891) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.30559790C>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559790C>A Locations: - c.566G>T (NCI-TCGA:ENST00000378962) - p.R189I (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs2033363332 | 189 | R>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000023.11:g.30559790C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559790C>T Locations: - p.Arg189Lys (Ensembl:ENST00000378962) - c.566G>A (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1282574812 | 191 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.88) Somatic: No Accession: NC_000023.11:g.30559785T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559785T>C Locations: - p.Thr191Ala (Ensembl:ENST00000378962) - c.571A>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs950582378 | 195 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.30559771C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559771C>G Locations: - p.Glu195Asp (Ensembl:ENST00000378962) - c.585G>C (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV66762713 | 195 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.242) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000023.11:g.30559773C>T Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559773C>T Locations: - c.583G>A (NCI-TCGA:ENST00000378962) - p.E195K (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
TCGA novel | 198 | S>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.99) Somatic: No Accession: NC_000023.11:g.30559763C>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559763C>A Locations: - c.593G>T (NCI-TCGA:ENST00000378962) - p.S198I (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1197636385 | 201 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000023.11:g.30559754A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559754A>G Locations: - p.Met201Thr (Ensembl:ENST00000378962) - c.602T>C (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs780069492 | 202 | Q>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000023.11:g.30559752G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559752G>C Locations: - p.Gln202Glu (Ensembl:ENST00000378962) - c.604C>G (Ensembl:ENST00000378962) Source type: large scale study | |||||||
TCGA novel | 202 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000023.11:g.30559750C>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559750C>A Locations: - c.606G>T (NCI-TCGA:ENST00000378962) - p.Q202H (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs772162280 | 202 | Q>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000023.11:g.30559751T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559751T>A Locations: - p.Gln202Leu (Ensembl:ENST00000378962) - c.605A>T (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV100973370 | 202 | Q>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.184) - SIFT: tolerated (0.17) Somatic: Yes Accession: NC_000023.11:g.30559751T>C Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559751T>C Locations: - c.605A>G (NCI-TCGA:ENST00000378962) - p.Q202R (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1206851677 | 203 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.30559749T>C Codon: AAT/GAT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559749T>C Locations: - p.Asn203Asp (Ensembl:ENST00000378962) - c.607A>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV66762397 | 204 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.943) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.30559745G>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559745G>A Locations: - c.611C>T (NCI-TCGA:ENST00000378962) - p.P204L (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs745999065 | 205 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.30559743T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559743T>C Locations: - p.Ile205Val (Ensembl:ENST00000378962) - c.613A>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV66762505 | 206 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.30559739G>T Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559739G>T Locations: - c.617C>A (NCI-TCGA:ENST00000378962) - p.S206Y (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs2147082292 | 209 | V>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.275) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000023.11:g.30559730A>T Codon: GTT/GAT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559730A>T Locations: - p.Val209Asp (Ensembl:ENST00000378962) - c.626T>A (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1930387945 | 214 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.30559715A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559715A>G Locations: - p.Leu214Pro (Ensembl:ENST00000378962) - c.641T>C (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV100973278 | 216 | Q>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.259) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000023.11:g.30559709T>C Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559709T>C Locations: - c.647A>G (NCI-TCGA:ENST00000378962) - p.Q216R (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1334355121 | 218 | V>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000023.11:g.30559704C>G Codon: GTT/CTT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559704C>G Locations: - p.Val218Leu (Ensembl:ENST00000378962) - c.652G>C (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1930387749 | 219 | V>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000023.11:g.30559701C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559701C>A Locations: - p.Val219Leu (Ensembl:ENST00000378962) - c.655G>T (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1384826387 | 220 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.30559698C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559698C>T Locations: - p.Glu220Lys (Ensembl:ENST00000378962) - c.658G>A (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
TCGA novel | 223 | K>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.254) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.30559689T>C Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559689T>C Locations: - c.667A>G (NCI-TCGA:ENST00000378962) - p.K223E (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 223 | K>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.12) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000023.11:g.30559688T>C Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559688T>C Locations: - c.668A>G (NCI-TCGA:ENST00000378962) - p.K223R (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs963341018 | 224 | Q>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.30559686G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559686G>C Locations: - p.Gln224Glu (Ensembl:ENST00000378962) - c.670C>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV66762734 | 226 | I>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.529) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.30559679A>G Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559679A>G Locations: - c.677T>C (NCI-TCGA:ENST00000378962) - p.I226T (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV100973233 | 227 | M>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.487) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000023.11:g.30559677T>C Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559677T>C Locations: - c.679A>G (NCI-TCGA:ENST00000378962) - p.M227V (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV66763291 | 228 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.30559674C>T Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559674C>T Locations: - c.682G>A (NCI-TCGA:ENST00000378962) - p.D228N (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs751575628 | 230 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (1) - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Population frequencies: - MAF: 0.00002749 (gnomAD) Accession: NC_000023.11:g.30559668C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559668C>T Locations: - p.V230M (NCI-TCGA:ENST00000378962) - p.Val230Met (Ensembl:ENST00000378962) - c.688G>A (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
TCGA novel | 232 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.176) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000023.11:g.30559662G>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559662G>A Locations: - c.694C>T (NCI-TCGA:ENST00000378962) - p.H232Y (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV66762732 | 233 | D>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.69) Somatic: Yes Accession: NC_000023.11:g.30559658T>G Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559658T>G Locations: - c.698A>C (NCI-TCGA:ENST00000378962) - p.D233A (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs111847753 | 233 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.386) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000023.11:g.30559658T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559658T>C Locations: - p.Asp233Gly (Ensembl:ENST00000378962) - c.698A>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV100973246 COSV66762760 | 233 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.277) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000023.11:g.30559659C>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559659C>A Locations: - c.697G>T (NCI-TCGA:ENST00000378962) - p.D233Y (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV66762472 COSV66763043 | 236 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.862) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000023.11:g.30559650G>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559650G>A Locations: - c.706C>T (NCI-TCGA:ENST00000378962) - p.P236S (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV100973220 | 237 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000023.11:g.30559646G>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559646G>A Locations: - c.710C>T (NCI-TCGA:ENST00000378962) - p.T237I (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV100973237 | 241 | A>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.834) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.30559634G>T Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559634G>T Locations: - c.722C>A (NCI-TCGA:ENST00000378962) - p.A241E (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV100973237 | 241 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.574) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.30559634G>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559634G>A Locations: - c.722C>T (NCI-TCGA:ENST00000378962) - p.A241V (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs749987055 | 242 | S>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.30559632A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559632A>G Locations: - p.Ser242Pro (Ensembl:ENST00000378962) - c.724T>C (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV100973340 | 243 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.748) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000023.11:g.30559629C>T Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559629C>T Locations: - c.727G>A (NCI-TCGA:ENST00000378962) - p.E243K (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs374413778 | 245 | I>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000023.11:g.30559623T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559623T>C Locations: - p.Ile245Val (Ensembl:ENST00000378962) - c.733A>G (Ensembl:ENST00000378962) Source type: large scale study | |||||||
rs776798262 | 249 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.30559611C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559611C>T Locations: - p.Val249Ile (Ensembl:ENST00000378962) - c.745G>A (Ensembl:ENST00000378962) Source type: large scale study | |||||||
TCGA novel | 250 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.30559608C>T Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559608C>T Locations: - c.748G>A (NCI-TCGA:ENST00000378962) - p.D250N (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs764476691 | 251 | Q>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.30559605G>T Codon: CAA/AAA Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559605G>T Locations: - p.Gln251Lys (Ensembl:ENST00000378962) - c.751C>A (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV66762543 | 255 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000023.11:g.30559593G>A Consequence type: stop gained Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559593G>A Locations: - c.763C>T (NCI-TCGA:ENST00000378962) - p.Q255* (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1461739313 | 256 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.122) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.30559589A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559589A>G Locations: - p.Val256Ala (Ensembl:ENST00000378962) - c.767T>C (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
TCGA novel | 256 | V>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000023.11:g.30559590C>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559590C>A Locations: - c.766G>T (NCI-TCGA:ENST00000378962) - p.V256L (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV100973353 | 258 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000023.11:g.30559584T>A Consequence type: stop gained Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559584T>A Locations: - c.772A>T (NCI-TCGA:ENST00000378962) - p.R258* (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV100973258 | 259 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000023.11:g.30559581C>A Consequence type: stop gained Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559581C>A Locations: - c.775G>T (NCI-TCGA:ENST00000378962) - p.E259* (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV100973325 | 260 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.719) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000023.11:g.30559576C>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559576C>A Locations: - c.780G>T (NCI-TCGA:ENST00000378962) - p.K260N (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs370176469 | 261 | N>K | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000023.11:g.30559573A>C Codon: AAT/AAG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559573A>C Locations: - p.Asn261Lys (Ensembl:ENST00000378962) - c.783T>G (Ensembl:ENST00000378962) Source type: large scale study | |||||||
COSV100973329 | 263 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.801) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000023.11:g.30559569C>G Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559569C>G Locations: - c.787G>C (NCI-TCGA:ENST00000378962) - p.E263Q (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1230950206 | 264 | T>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000023.11:g.30559565G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559565G>C Locations: - p.Thr264Ser (Ensembl:ENST00000378962) - c.791C>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV100973355 | 265 | S>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000023.11:g.30559562G>T Consequence type: stop gained Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559562G>T Locations: - c.794C>A (NCI-TCGA:ENST00000378962) - p.S265* (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV100973355 | 265 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000023.11:g.30559562G>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559562G>A Locations: - c.794C>T (NCI-TCGA:ENST00000378962) - p.S265L (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1930386198 | 265 | S>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.204) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.30559563A>G Codon: TCA/CCA Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559563A>G Locations: - p.Ser265Pro (Ensembl:ENST00000378962) - c.793T>C (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1930386130 | 266 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.834) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.30559560T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559560T>C Locations: - p.Lys266Glu (Ensembl:ENST00000378962) - c.796A>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV66763036 | 267 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.904) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000023.11:g.30559557C>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559557C>A Locations: - c.799G>T (NCI-TCGA:ENST00000378962) - p.A267S (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
TCGA novel | 268 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.203) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.30559553C>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559553C>A Locations: - c.803G>T (NCI-TCGA:ENST00000378962) - p.R268I (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 268 | R>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.30559552T>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559552T>A Locations: - c.804A>T (NCI-TCGA:ENST00000378962) - p.R268S (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1930386065 | 269 | D>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.30559550T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559550T>A Locations: - p.Asp269Val (Ensembl:ENST00000378962) - c.806A>T (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV66763228 | 269 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.30559551C>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559551C>A Locations: - c.805G>T (NCI-TCGA:ENST00000378962) - p.D269Y (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1930386002 | 272 | F>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.30559541A>G Codon: TTT/TCT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559541A>G Locations: - p.Phe272Ser (Ensembl:ENST00000378962) - c.815T>C (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs745933194 | 273 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000023.11:g.30559538C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559538C>T Locations: - p.Ser273Asn (Ensembl:ENST00000378962) - c.818G>A (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV66762899 rs149817919 | 274 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ESP TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.56) - PolyPhen: benign (0) - SIFT: tolerated (0.55) Somatic: No Population frequencies: - MAF: 0.00003308 (gnomAD) Accession: NC_000023.11:g.30559535C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559535C>T Locations: - p.R274H (NCI-TCGA:ENST00000378962) - p.Arg274His (Ensembl:ENST00000378962) - c.821G>A (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV66763147 | 276 | L>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.30559529A>G Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559529A>G Locations: - c.827T>C (NCI-TCGA:ENST00000378962) - p.L276S (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV100973368 | 278 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.735) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000023.11:g.30559524A>T Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559524A>T Locations: - c.832T>A (NCI-TCGA:ENST00000378962) - p.L278M (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
TCGA novel | 279 | M>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.30559520A>C Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559520A>C Locations: - c.836T>G (NCI-TCGA:ENST00000378962) - p.M279R (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1353222611 | 279 | M>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000023.11:g.30559521T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559521T>C Locations: - p.Met279Val (Ensembl:ENST00000378962) - c.835A>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1051544175 | 281 | T>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000023.11:g.30559515T>G Codon: ACT/CCT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559515T>G Locations: - p.Thr281Pro (Ensembl:ENST00000378962) - c.841A>C (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV100973338 | 282 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000023.11:g.30559512C>T Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559512C>T Locations: - c.844G>A (NCI-TCGA:ENST00000378962) - p.E282K (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1330115492 | 283 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.30559509T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559509T>C Locations: - p.Ile283Val (Ensembl:ENST00000378962) - c.847A>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs2147082220 | 285 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.92) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.30559502T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559502T>C Locations: - p.Glu285Gly (Ensembl:ENST00000378962) - c.854A>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs747370788 | 286 | I>S | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.30559499A>C Codon: ATT/AGT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559499A>C Locations: - p.Ile286Ser (Ensembl:ENST00000378962) - c.857T>G (Ensembl:ENST00000378962) Source type: large scale study | |||||||
COSV66763011 | 290 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.198) - SIFT: tolerated (0.37) Somatic: Yes Accession: NC_000023.11:g.30559487C>T Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559487C>T Locations: - c.869G>A (NCI-TCGA:ENST00000378962) - p.S290N (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs1286069579 | 296 | Y>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.30559468A>T Codon: TAT/TAA Consequence type: stop gained Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559468A>T Locations: - p.Tyr296Ter (Ensembl:ENST00000378962) - c.888T>A (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs770999789 | 296 | Y>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.94) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000023.11:g.30559469T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559469T>C Locations: - p.Tyr296Cys (Ensembl:ENST00000378962) - c.887A>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs770999789 | 296 | Y>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000023.11:g.30559469T>A Codon: TAT/TTT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559469T>A Locations: - p.Tyr296Phe (Ensembl:ENST00000378962) - c.887A>T (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV66762726 | 297 | S>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.30559466C>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559466C>A Locations: - c.890G>T (NCI-TCGA:ENST00000378962) - p.S297I (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs929032324 | 298 | N>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000023.11:g.30559464T>G Codon: AAT/CAT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559464T>G Locations: - p.Asn298His (Ensembl:ENST00000378962) - c.892A>C (Ensembl:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs749530592 | 300 | N>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.147) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.30559457T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559457T>C Locations: - p.Asn300Ser (Ensembl:ENST00000378962) - c.899A>G (Ensembl:ENST00000378962) Source type: large scale study | |||||||
COSV66762826 | 301 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000023.11:g.30559454G>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559454G>A Locations: - c.902C>T (NCI-TCGA:ENST00000378962) - p.P301L (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
COSV66763337 | 301 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000023.11:g.30559455G>A Consequence type: missense Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559455G>A Locations: - c.901C>T (NCI-TCGA:ENST00000378962) - p.P301S (NCI-TCGA:ENST00000378962) Source type: large scale study Cross-references: | |||||||
rs780809127 | 302 | *>W | ExAC gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000023.11:g.30559451T>C Codon: TAG/TGG Consequence type: stop lost Cytogenetic band: Xp21.2 Genomic location: NC_000023.11:g.30559451T>C Locations: - p.Ter302TrpextTer12 (Ensembl:ENST00000378962) - c.905A>G (Ensembl:ENST00000378962) Source type: large scale study Cross-references: |