A0A1B0GWH4 · HSFX3_HUMAN
- ProteinHeat shock transcription factor, X-linked member 3
- GeneHSFX3
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids333 (go to sequence)
- Protein existenceInferred from homology
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1432349954 | 2 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.149549848G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549848G>A Locations: - p.Ala2Val (Ensembl:ENST00000431993) - c.5C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1375640804 | 5 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.149549839T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549839T>C Locations: - p.Asn5Ser (Ensembl:ENST00000431993) - c.14A>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089900209 | 8 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.149549831G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549831G>A Locations: - p.Gln8Ter (Ensembl:ENST00000431993) - c.22C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1557348583 | 10 | Y>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000023.11:g.149549825A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549825A>G Locations: - p.Tyr10His (Ensembl:ENST00000431993) - c.28T>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1387605145 | 18 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.78) Somatic: No Accession: NC_000023.11:g.149549800A>G Codon: GTT/GCT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549800A>G Locations: - p.Val18Ala (Ensembl:ENST00000431993) - c.53T>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089900020 | 19 | G>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.149549798C>A Codon: GGT/TGT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549798C>A Locations: - p.Gly19Cys (Ensembl:ENST00000431993) - c.55G>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1301215172 | 21 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000023.11:g.149549792C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549792C>T Locations: - p.Glu21Lys (Ensembl:ENST00000431993) - c.61G>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1301215172 | 21 | E>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000023.11:g.149549792C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549792C>G Locations: - p.Glu21Gln (Ensembl:ENST00000431993) - c.61G>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1353239971 | 27 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.116) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000023.11:g.149549773G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549773G>A Locations: - p.Pro27Leu (Ensembl:ENST00000431993) - c.80C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1353239971 | 27 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.769) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000023.11:g.149549773G>C Codon: CCA/CGA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549773G>C Locations: - p.Pro27Arg (Ensembl:ENST00000431993) - c.80C>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1304320695 | 27 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.367) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000023.11:g.149549774G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549774G>T Locations: - p.Pro27Thr (Ensembl:ENST00000431993) - c.79C>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089899828 | 28 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.529) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000023.11:g.149549770G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549770G>C Locations: - p.Ser28Cys (Ensembl:ENST00000431993) - c.83C>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1258667223 | 29 | G>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000023.11:g.149549767C>A Codon: GGT/GTT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549767C>A Locations: - p.Gly29Val (Ensembl:ENST00000431993) - c.86G>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089899733 | 30 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.726) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000023.11:g.149549764G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549764G>A Locations: - p.Ser30Phe (Ensembl:ENST00000431993) - c.89C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089899713 | 31 | S>P | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000023.11:g.149549762A>G Codon: TCA/CCA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549762A>G Locations: - p.Ser31Pro (Ensembl:ENST00000431993) - c.91T>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1486731297 | 34 | P>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.706) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.149549752G>T Codon: CCA/CAA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549752G>T Locations: - p.Pro34Gln (Ensembl:ENST00000431993) - c.101C>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1205593260 | 35 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.483) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.149549749T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549749T>C Locations: - p.Asn35Ser (Ensembl:ENST00000431993) - c.104A>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1557348572 | 36 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.207) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000023.11:g.149549747G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549747G>A Locations: - p.Pro36Ser (Ensembl:ENST00000431993) - c.106C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1252326114 | 38 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.95) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149549740G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549740G>A Locations: - p.Ser38Phe (Ensembl:ENST00000431993) - c.113C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1452544087 | 39 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000023.11:g.149549737C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549737C>T Locations: - p.Ser39Asn (Ensembl:ENST00000431993) - c.116G>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1194947330 | 39 | S>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.149549736G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549736G>T Locations: - p.Ser39Arg (Ensembl:ENST00000431993) - c.117C>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1395235979 | 41 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.149549731A>G Codon: GTT/GCT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549731A>G Locations: - p.Val41Ala (Ensembl:ENST00000431993) - c.122T>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1156515141 | 42 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.916) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.149549729A>C Codon: TTG/GTG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549729A>C Locations: - p.Leu42Val (Ensembl:ENST00000431993) - c.124T>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089899387 | 43 | D>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.777) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.149549726C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549726C>A Locations: - p.Asp43Tyr (Ensembl:ENST00000431993) - c.127G>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1347269901 | 44 | R>M | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.144) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000023.11:g.149549722C>A Codon: AGG/ATG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549722C>A Locations: - p.Arg44Met (Ensembl:ENST00000431993) - c.131G>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1293351539 | 46 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.149549716T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549716T>C Locations: - p.Glu46Gly (Ensembl:ENST00000431993) - c.137A>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1454663254 | 46 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000023.11:g.149549717C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549717C>T Locations: - p.Glu46Lys (Ensembl:ENST00000431993) - c.136G>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs782704301 | 49 | A>P | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000023.11:g.149549708C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549708C>G Locations: - p.Ala49Pro (Ensembl:ENST00000431993) - c.145G>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs782704301 | 49 | A>T | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.458) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000023.11:g.149549708C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549708C>T Locations: - p.Ala49Thr (Ensembl:ENST00000431993) - c.145G>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1309447629 | 62 | P>S | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.278) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000023.11:g.149549669G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549669G>A Locations: - p.Pro62Ser (Ensembl:ENST00000431993) - c.184C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1318458742 | 64 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.116) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000023.11:g.149549661G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549661G>T Locations: - p.Asp64Glu (Ensembl:ENST00000431993) - c.192C>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089898982 | 65 | R>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.149549660G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549660G>A Locations: - p.Arg65Ter (Ensembl:ENST00000431993) - c.193C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1239461123 | 65 | R>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000023.11:g.149549659C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549659C>T Locations: - p.Arg65Gln (Ensembl:ENST00000431993) - c.194G>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089898915 | 66 | N>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.264) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149549657T>G Codon: AAC/CAC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549657T>G Locations: - p.Asn66His (Ensembl:ENST00000431993) - c.196A>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1272368446 | 67 | Q>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.149549654G>A Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549654G>A Locations: - p.Gln67Ter (Ensembl:ENST00000431993) - c.199C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs782169596 | 68 | R>C | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000023.11:g.149549651G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549651G>A Locations: - p.Arg68Cys (Ensembl:ENST00000431993) - c.202C>T (Ensembl:ENST00000431993) Source type: large scale study | |||||||
rs1253023579 | 68 | R>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000023.11:g.149549650C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549650C>T Locations: - p.Arg68His (Ensembl:ENST00000431993) - c.203G>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1253023579 | 68 | R>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000023.11:g.149549650C>G Codon: CGC/CCC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549650C>G Locations: - p.Arg68Pro (Ensembl:ENST00000431993) - c.203G>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1175077451 | 69 | V>M | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.119) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000023.11:g.149549648C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549648C>T Locations: - p.Val69Met (Ensembl:ENST00000431993) - c.205G>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1602827146 | 70 | V>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.218) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149549645C>A Codon: GTC/TTC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549645C>A Locations: - p.Val70Phe (Ensembl:ENST00000431993) - c.208G>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2124167191 | 72 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000023.11:g.149549638A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549638A>G Locations: - p.Val72Ala (Ensembl:ENST00000431993) - c.215T>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1419356538 | 72 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000023.11:g.149549639C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549639C>T Locations: - p.Val72Met (Ensembl:ENST00000431993) - c.214G>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089898603 | 74 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.149549631G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549631G>C Locations: - p.Asp74Glu (Ensembl:ENST00000431993) - c.222C>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089898565 | 78 | L>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.176) - SIFT: tolerated (0.72) Somatic: No Accession: NC_000023.11:g.149549621G>T Codon: CTT/ATT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549621G>T Locations: - p.Leu78Ile (Ensembl:ENST00000431993) - c.232C>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1416229466 | 81 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.888) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.149549612G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549612G>A Locations: - p.Leu81Phe (Ensembl:ENST00000431993) - c.241C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1416229466 | 81 | L>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.149549612G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549612G>T Locations: - p.Leu81Ile (Ensembl:ENST00000431993) - c.241C>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1166302506 | 82 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149549608G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549608G>A Locations: - p.Ser82Phe (Ensembl:ENST00000431993) - c.245C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2124167147 | 84 | P>T | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149549603G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549603G>T Locations: - p.Pro84Thr (Ensembl:ENST00000431993) - c.250C>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089898312 | 88 | W>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149549589C>A Codon: TGG/TGT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549589C>A Locations: - p.Trp88Cys (Ensembl:ENST00000431993) - c.264G>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1557348540 | 88 | W>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.917) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149549591A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549591A>G Locations: - p.Trp88Arg (Ensembl:ENST00000431993) - c.262T>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1300008305 | 89 | T>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000023.11:g.149549587G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549587G>A Locations: - p.Thr89Met (Ensembl:ENST00000431993) - c.266C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1374297879 | 95 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.167) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000023.11:g.149549569G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549569G>A Locations: - p.Thr95Ile (Ensembl:ENST00000431993) - c.284C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1374297879 | 95 | T>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.124) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.149549569G>T Codon: ACA/AAA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549569G>T Locations: - p.Thr95Lys (Ensembl:ENST00000431993) - c.284C>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089898142 | 96 | F>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000023.11:g.149549567A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549567A>G Locations: - p.Phe96Leu (Ensembl:ENST00000431993) - c.286T>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089898109 | 96 | F>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000023.11:g.149549565G>C Codon: TTC/TTG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549565G>C Locations: - p.Phe96Leu (Ensembl:ENST00000431993) - c.288C>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1395736441 | 97 | K>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000023.11:g.149549564T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549564T>G Locations: - p.Lys97Gln (Ensembl:ENST00000431993) - c.289A>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2124167077 | 99 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000023.11:g.149549557A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549557A>C Locations: - p.Val99Gly (Ensembl:ENST00000431993) - c.296T>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089898044 | 99 | V>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.895) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.149549558C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549558C>T Locations: - p.Val99Met (Ensembl:ENST00000431993) - c.295G>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1332436699 | 103 | D>N | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000023.11:g.149549546C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549546C>T Locations: - p.Asp103Asn (Ensembl:ENST00000431993) - c.307G>A (Ensembl:ENST00000431993) Source type: large scale study | |||||||
rs1273771848 | 106 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.299) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.149549535G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549535G>C Locations: - p.Asp106Glu (Ensembl:ENST00000431993) - c.318C>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2124167058 | 106 | D>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.637) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149549537C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549537C>G Locations: - p.Asp106His (Ensembl:ENST00000431993) - c.316G>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1306888675 | 107 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.059) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.149549534C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549534C>A Locations: - p.Ala107Ser (Ensembl:ENST00000431993) - c.319G>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1306888675 | 107 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.149549534C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549534C>T Locations: - p.Ala107Thr (Ensembl:ENST00000431993) - c.319G>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1201800692 | 108 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.324) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000023.11:g.149549531C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549531C>T Locations: - p.Val108Met (Ensembl:ENST00000431993) - c.322G>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089897784 | 110 | I>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149549524A>T Codon: ATC/AAC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549524A>T Locations: - p.Ile110Asn (Ensembl:ENST00000431993) - c.329T>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs782015042 | 111 | D>H | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.166) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149549522C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549522C>G Locations: - p.Asp111His (Ensembl:ENST00000431993) - c.331G>C (Ensembl:ENST00000431993) Source type: large scale study | |||||||
rs782015042 | 111 | D>N | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149549522C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549522C>T Locations: - p.Asp111Asn (Ensembl:ENST00000431993) - c.331G>A (Ensembl:ENST00000431993) Source type: large scale study | |||||||
rs2089897668 | 112 | K>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.059) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000023.11:g.149549519T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549519T>G Locations: - p.Lys112Gln (Ensembl:ENST00000431993) - c.334A>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089897627 | 112 | K>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.109) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000023.11:g.149549518T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549518T>G Locations: - p.Lys112Thr (Ensembl:ENST00000431993) - c.335A>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1480751717 | 114 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.799) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149549513G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549513G>A Locations: - p.Leu114Phe (Ensembl:ENST00000431993) - c.340C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1186786447 | 115 | F>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.149549508G>C Codon: TTC/TTG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549508G>C Locations: - p.Phe115Leu (Ensembl:ENST00000431993) - c.345C>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs782766227 | 122 | R>Q | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.297) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000023.11:g.149549488C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549488C>T Locations: - p.Arg122Gln (Ensembl:ENST00000431993) - c.365G>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1476403778 | 122 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.316) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149549489G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549489G>A Locations: - p.Arg122Trp (Ensembl:ENST00000431993) - c.364C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs782112987 | 123 | K>R | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.149549485T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549485T>C Locations: - p.Lys123Arg (Ensembl:ENST00000431993) - c.368A>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089897376 | 125 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000023.11:g.149549480C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549480C>T Locations: - p.Ala125Thr (Ensembl:ENST00000431993) - c.373G>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089897305 | 126 | E>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.209) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149549476T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549476T>A Locations: - p.Glu126Val (Ensembl:ENST00000431993) - c.377A>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1557348527 | 128 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.516) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149549471T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549471T>C Locations: - p.Ile128Val (Ensembl:ENST00000431993) - c.382A>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1355193641 | 130 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.075) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000023.11:g.149549463T>A Codon: AAA/AAT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549463T>A Locations: - p.Lys130Asn (Ensembl:ENST00000431993) - c.390A>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089897115 | 130 | K>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.166) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.149549465T>G Codon: AAA/CAA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549465T>G Locations: - p.Lys130Gln (Ensembl:ENST00000431993) - c.388A>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089896971 | 132 | D>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000023.11:g.149549457G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549457G>C Locations: - p.Asp132Glu (Ensembl:ENST00000431993) - c.396C>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1557348523 | 132 | D>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.336) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149549459C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549459C>G Locations: - p.Asp132His (Ensembl:ENST00000431993) - c.394G>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs195226 | 133 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.299) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.149549455C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549455C>T Locations: - p.Ser133Asn (Ensembl:ENST00000431993) - c.398G>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089896865 | 134 | L>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.149549452A>T Codon: TTG/TAG Consequence type: stop gained Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549452A>T Locations: - p.Leu134Ter (Ensembl:ENST00000431993) - c.401T>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1353291553 | 135 | T>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.179) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149549449G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549449G>A Locations: - p.Thr135Met (Ensembl:ENST00000431993) - c.404C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs782581477 | 136 | S>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000023.11:g.149549447T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549447T>C Locations: - p.Ser136Gly (Ensembl:ENST00000431993) - c.406A>G (Ensembl:ENST00000431993) Source type: large scale study | |||||||
rs782432671 | 137 | F>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.488) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.149549442G>T Codon: TTC/TTA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549442G>T Locations: - p.Phe137Leu (Ensembl:ENST00000431993) - c.411C>A (Ensembl:ENST00000431993) Source type: large scale study | |||||||
rs1361171925 | 137 | F>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149549443A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549443A>G Locations: - p.Phe137Ser (Ensembl:ENST00000431993) - c.410T>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089896559 | 139 | R>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.867) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000023.11:g.149549438G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549438G>A Locations: - p.Arg139Cys (Ensembl:ENST00000431993) - c.415C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1557348509 | 139 | R>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.954) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000023.11:g.149549437C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549437C>T Locations: - p.Arg139His (Ensembl:ENST00000431993) - c.416G>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1274414614 | 141 | L>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000023.11:g.149549432G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549432G>T Locations: - p.Leu141Met (Ensembl:ENST00000431993) - c.421C>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089896470 | 143 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.726) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.149549426G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549426G>A Locations: - p.Leu143Phe (Ensembl:ENST00000431993) - c.427C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1307581779 | 145 | G>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149549419C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549419C>A Locations: - p.Gly145Val (Ensembl:ENST00000431993) - c.434G>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs781966227 | 146 | F>C | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149549416A>C Codon: TTC/TGC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549416A>C Locations: - p.Phe146Cys (Ensembl:ENST00000431993) - c.437T>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1277785847 | 147 | C>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000023.11:g.149549414A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549414A>G Locations: - p.Cys147Arg (Ensembl:ENST00000431993) - c.439T>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1486469580 | 149 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.149549407G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549407G>A Locations: - p.Thr149Ile (Ensembl:ENST00000431993) - c.446C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1486469580 | 149 | T>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149549407G>C Codon: ACA/AGA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549407G>C Locations: - p.Thr149Arg (Ensembl:ENST00000431993) - c.446C>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1189064583 | 150 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000023.11:g.149549405G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549405G>A Locations: - p.Arg150Cys (Ensembl:ENST00000431993) - c.448C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1241954129 | 150 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000023.11:g.149549404C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549404C>T Locations: - p.Arg150His (Ensembl:ENST00000431993) - c.449G>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1241954129 | 150 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.169) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000023.11:g.149549404C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549404C>A Locations: - p.Arg150Leu (Ensembl:ENST00000431993) - c.449G>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1474676814 | 151 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.149549401G>C Codon: CCA/CGA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549401G>C Locations: - p.Pro151Arg (Ensembl:ENST00000431993) - c.452C>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
TCGA novel rs2089896081 | 152 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.38) - PolyPhen: benign (0.067) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000023.11:g.149549398C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549398C>T Locations: - p.S152N (NCI-TCGA:ENST00000431993) - p.Ser152Asn (Ensembl:ENST00000431993) - c.455G>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2089896005 | 153 | N>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.453) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.149549395T>A Codon: AAC/ATC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549395T>A Locations: - p.Asn153Ile (Ensembl:ENST00000431993) - c.458A>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1557348494 | 157 | N>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.443) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000023.11:g.149549383T>G Codon: AAC/ACC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549383T>G Locations: - p.Asn157Thr (Ensembl:ENST00000431993) - c.470A>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
TCGA novel | 158 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000023.11:g.149549379C>A Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549379C>A Locations: - c.474G>T (NCI-TCGA:ENST00000431993) - p.K158N (NCI-TCGA:ENST00000431993) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2089895919 | 160 | M>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000023.11:g.149549374A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549374A>G Locations: - p.Met160Thr (Ensembl:ENST00000431993) - c.479T>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1420262577 | 161 | M>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.33) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.149549371A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149549371A>G Locations: - p.Met161Thr (Ensembl:ENST00000431993) - c.482T>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1275631328 | 165 | N>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.518) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149548899G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548899G>T Locations: - p.Asn165Lys (Ensembl:ENST00000431993) - c.495C>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1357721378 | 166 | S>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.149548897G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548897G>T Locations: - p.Ser166Tyr (Ensembl:ENST00000431993) - c.497C>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1557348443 | 168 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.149548892A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548892A>G Locations: - p.Phe168Leu (Ensembl:ENST00000431993) - c.502T>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1602825467 | 173 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.712) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149548876G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548876G>C Locations: - p.Pro173Arg (Ensembl:ENST00000431993) - c.518C>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1439769429 | 180 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000023.11:g.149548855T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548855T>C Locations: - p.Gln180Arg (Ensembl:ENST00000431993) - c.539A>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1557348439 | 181 | R>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.282) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000023.11:g.149548852C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548852C>T Locations: - p.Arg181Lys (Ensembl:ENST00000431993) - c.542G>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1182799847 | 183 | D>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000023.11:g.149548846T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548846T>A Locations: - p.Asp183Val (Ensembl:ENST00000431993) - c.548A>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089891607 | 188 | T>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000023.11:g.149548832T>A Codon: ACC/TCC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548832T>A Locations: - p.Thr188Ser (Ensembl:ENST00000431993) - c.562A>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1474777964 | 189 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.61) Somatic: No Accession: NC_000023.11:g.149548829C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548829C>T Locations: - p.Ala189Thr (Ensembl:ENST00000431993) - c.565G>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089891466 | 190 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.226) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000023.11:g.149548824C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548824C>A Locations: - p.Gln190His (Ensembl:ENST00000431993) - c.570G>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1185585350 | 192 | A>V | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000023.11:g.149548819G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548819G>A Locations: - p.Ala192Val (Ensembl:ENST00000431993) - c.575C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1419918409 | 194 | R>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000023.11:g.149548814G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548814G>A Locations: - p.Arg194Cys (Ensembl:ENST00000431993) - c.580C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1458399210 | 194 | R>H | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000023.11:g.149548813C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548813C>T Locations: - p.Arg194His (Ensembl:ENST00000431993) - c.581G>A (Ensembl:ENST00000431993) Source type: large scale study | |||||||
rs1602825295 | 199 | K>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.321) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.149548798T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548798T>G Locations: - p.Lys199Thr (Ensembl:ENST00000431993) - c.596A>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1166805303 | 202 | N>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.149548788A>T Codon: AAT/AAA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548788A>T Locations: - p.Asn202Lys (Ensembl:ENST00000431993) - c.606T>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089891223 | 206 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000023.11:g.149548777G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548777G>A Locations: - p.Thr206Ile (Ensembl:ENST00000431993) - c.617C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1393699391 | 208 | R>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.824) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000023.11:g.149548772G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548772G>A Locations: - p.Arg208Cys (Ensembl:ENST00000431993) - c.622C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1308282029 | 208 | R>H | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.92) Somatic: No Accession: NC_000023.11:g.149548771C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548771C>T Locations: - p.Arg208His (Ensembl:ENST00000431993) - c.623G>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1308282029 | 208 | R>L | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.244) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000023.11:g.149548771C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548771C>A Locations: - p.Arg208Leu (Ensembl:ENST00000431993) - c.623G>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089891041 | 210 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000023.11:g.149548766G>C Codon: CTA/GTA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548766G>C Locations: - p.Leu210Val (Ensembl:ENST00000431993) - c.628C>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1355179129 | 211 | R>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.291) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149548763G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548763G>A Locations: - p.Arg211Cys (Ensembl:ENST00000431993) - c.631C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1413289801 | 211 | R>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.212) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.149548762C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548762C>T Locations: - p.Arg211His (Ensembl:ENST00000431993) - c.632G>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1295552400 | 216 | N>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.072) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000023.11:g.149548748T>G Codon: AAT/CAT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548748T>G Locations: - p.Asn216His (Ensembl:ENST00000431993) - c.646A>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089890837 | 221 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000023.11:g.149548733C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548733C>T Locations: - p.Ala221Thr (Ensembl:ENST00000431993) - c.661G>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1602825114 | 225 | C>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000023.11:g.149548721A>T Codon: TGT/AGT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548721A>T Locations: - p.Cys225Ser (Ensembl:ENST00000431993) - c.673T>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1227421944 | 229 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.25) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000023.11:g.149548708G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548708G>A Locations: - p.Ala229Val (Ensembl:ENST00000431993) - c.686C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089890683 | 230 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.434) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000023.11:g.149548705G>C Codon: CCC/CGC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548705G>C Locations: - p.Pro230Arg (Ensembl:ENST00000431993) - c.689C>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1341573980 | 231 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.167) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000023.11:g.149548701A>C Codon: AGT/AGG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548701A>C Locations: - p.Ser231Arg (Ensembl:ENST00000431993) - c.693T>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2124165198 | 232 | V>G | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.075) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.149548699A>C Codon: GTT/GGT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548699A>C Locations: - p.Val232Gly (Ensembl:ENST00000431993) - c.695T>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089890534 | 236 | S>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.139) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.149548687C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548687C>A Locations: - p.Ser236Ile (Ensembl:ENST00000431993) - c.707G>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1279847114 | 243 | R>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000023.11:g.149548667G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548667G>A Locations: - p.Arg243Cys (Ensembl:ENST00000431993) - c.727C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs368822707 | 243 | R>H | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.205) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000023.11:g.149548666C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548666C>T Locations: - p.Arg243His (Ensembl:ENST00000431993) - c.728G>A (Ensembl:ENST00000431993) Source type: large scale study | |||||||
rs1279847114 | 243 | R>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000023.11:g.149548667G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548667G>T Locations: - p.Arg243Ser (Ensembl:ENST00000431993) - c.727C>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs782486806 | 244 | S>P | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000023.11:g.149548664A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548664A>G Locations: - p.Ser244Pro (Ensembl:ENST00000431993) - c.730T>C (Ensembl:ENST00000431993) Source type: large scale study | |||||||
rs782486806 | 244 | S>T | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.586) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000023.11:g.149548664A>T Codon: TCT/ACT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548664A>T Locations: - p.Ser244Thr (Ensembl:ENST00000431993) - c.730T>A (Ensembl:ENST00000431993) Source type: large scale study | |||||||
rs2089890299 | 245 | G>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.764) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000023.11:g.149548660C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548660C>G Locations: - p.Gly245Ala (Ensembl:ENST00000431993) - c.734G>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1258088422 | 246 | M>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.149548657A>C Codon: ATG/AGG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548657A>C Locations: - p.Met246Arg (Ensembl:ENST00000431993) - c.737T>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089890111 | 252 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.149548639G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548639G>A Locations: - p.Ala252Val (Ensembl:ENST00000431993) - c.755C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1424256896 | 256 | P>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000023.11:g.149548628G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548628G>T Locations: - p.Pro256Thr (Ensembl:ENST00000431993) - c.766C>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089889855 | 260 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.69) Somatic: No Accession: NC_000023.11:g.149548616C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548616C>T Locations: - p.Gly260Arg (Ensembl:ENST00000431993) - c.778G>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1432542162 | 261 | P>S | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000023.11:g.149548613G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548613G>A Locations: - p.Pro261Ser (Ensembl:ENST00000431993) - c.781C>T (Ensembl:ENST00000431993) Source type: large scale study | |||||||
rs1432542162 | 261 | P>T | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000023.11:g.149548613G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548613G>T Locations: - p.Pro261Thr (Ensembl:ENST00000431993) - c.781C>A (Ensembl:ENST00000431993) Source type: large scale study | |||||||
rs1602824827 | 262 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.674) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149548609G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548609G>A Locations: - p.Pro262Leu (Ensembl:ENST00000431993) - c.785C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089889670 | 263 | Q>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.149548607G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548607G>C Locations: - p.Gln263Glu (Ensembl:ENST00000431993) - c.787C>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089889618 | 264 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.476) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000023.11:g.149548602T>G Codon: GAA/GAC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548602T>G Locations: - p.Glu264Asp (Ensembl:ENST00000431993) - c.792A>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2124164832 | 265 | P>L | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000023.11:g.149548600G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548600G>A Locations: - p.Pro265Leu (Ensembl:ENST00000431993) - c.794C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089889537 | 267 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000023.11:g.149548595C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548595C>T Locations: - p.Gly267Ser (Ensembl:ENST00000431993) - c.799G>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs782216956 | 268 | P>S | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.482) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000023.11:g.149548592G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548592G>A Locations: - p.Pro268Ser (Ensembl:ENST00000431993) - c.802C>T (Ensembl:ENST00000431993) Source type: large scale study | |||||||
rs1557348410 | 272 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149548579C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548579C>A Locations: - p.Gly272Val (Ensembl:ENST00000431993) - c.815G>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs782588689 | 273 | T>I | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.579) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149548576G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548576G>A Locations: - p.Thr273Ile (Ensembl:ENST00000431993) - c.818C>T (Ensembl:ENST00000431993) Source type: large scale study | |||||||
rs2124164707 | 275 | G>V | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.575) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000023.11:g.149548570C>A Codon: GGG/GTG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548570C>A Locations: - p.Gly275Val (Ensembl:ENST00000431993) - c.824G>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1328751673 | 277 | V>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.289) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000023.11:g.149548565C>G Codon: GTC/CTC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548565C>G Locations: - p.Val277Leu (Ensembl:ENST00000431993) - c.829G>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089889139 | 281 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.907) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149548552G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548552G>A Locations: - p.Ser281Phe (Ensembl:ENST00000431993) - c.842C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1302848302 | 281 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.149548553A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548553A>G Locations: - p.Ser281Pro (Ensembl:ENST00000431993) - c.841T>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1345988655 | 282 | S>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000023.11:g.149548549G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548549G>A Locations: - p.Ser282Leu (Ensembl:ENST00000431993) - c.845C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089888944 | 291 | G>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.362) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000023.11:g.149548522C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548522C>G Locations: - p.Gly291Ala (Ensembl:ENST00000431993) - c.872G>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089888984 | 291 | G>W | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149548523C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548523C>A Locations: - p.Gly291Trp (Ensembl:ENST00000431993) - c.871G>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089888895 | 294 | S>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000023.11:g.149548514T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548514T>C Locations: - p.Ser294Gly (Ensembl:ENST00000431993) - c.880A>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089888798 | 295 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.149548509A>C Codon: AGT/AGG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548509A>C Locations: - p.Ser295Arg (Ensembl:ENST00000431993) - c.885T>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1483468590 | 298 | Y>N | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.241) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000023.11:g.149548502A>T Codon: TAC/AAC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548502A>T Locations: - p.Tyr298Asn (Ensembl:ENST00000431993) - c.892T>A (Ensembl:ENST00000431993) Source type: large scale study | |||||||
rs2089888702 | 298 | Y>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.831) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000023.11:g.149548501T>G Codon: TAC/TCC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548501T>G Locations: - p.Tyr298Ser (Ensembl:ENST00000431993) - c.893A>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1259534289 | 302 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: tolerated (0.69) Somatic: No Accession: NC_000023.11:g.149548490C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548490C>T Locations: - p.Gly302Ser (Ensembl:ENST00000431993) - c.904G>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1557348399 | 303 | S>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.609) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000023.11:g.149548487T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548487T>C Locations: - p.Ser303Gly (Ensembl:ENST00000431993) - c.907A>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089888503 | 304 | V>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.862) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000023.11:g.149548484C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548484C>T Locations: - p.Val304Ile (Ensembl:ENST00000431993) - c.910G>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089888460 | 305 | M>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.339) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149548480A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548480A>G Locations: - p.Met305Thr (Ensembl:ENST00000431993) - c.914T>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1466236888 | 306 | S>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000023.11:g.149548477G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548477G>A Locations: - p.Ser306Phe (Ensembl:ENST00000431993) - c.917C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1188625215 | 308 | Y>* | 1000Genomes TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.149548470G>C Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548470G>C Locations: - p.Tyr308Ter (Ensembl:ENST00000431993) - c.924C>G (Ensembl:ENST00000431993) Source type: large scale study | |||||||
rs1569560832 | 308 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.255) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000023.11:g.149548471T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548471T>C Locations: - p.Tyr308Cys (Ensembl:ENST00000431993) - c.923A>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1394017420 | 309 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000023.11:g.149548468T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548468T>C Locations: - p.Asn309Ser (Ensembl:ENST00000431993) - c.926A>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1452109329 | 310 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000023.11:g.149548466T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548466T>C Locations: - p.Ile310Val (Ensembl:ENST00000431993) - c.928A>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs195222 | 313 | Y>* | 1000Genomes TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.149548455A>T Codon: TAT/TAA Consequence type: stop gained Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548455A>T Locations: - p.Tyr313Ter (Ensembl:ENST00000431993) - c.939T>A (Ensembl:ENST00000431993) Source type: large scale study | |||||||
rs2089888061 | 315 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.717) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000023.11:g.149548451G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548451G>C Locations: - p.Leu315Val (Ensembl:ENST00000431993) - c.943C>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1602824449 | 316 | L>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000023.11:g.149548447A>G Codon: TTG/TCG Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548447A>G Locations: - p.Leu316Ser (Ensembl:ENST00000431993) - c.947T>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1453462460 | 317 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.065) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000023.11:g.149548444G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548444G>A Locations: - p.Ala317Val (Ensembl:ENST00000431993) - c.950C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089887915 | 318 | S>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.356) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.149548441G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548441G>A Locations: - p.Ser318Phe (Ensembl:ENST00000431993) - c.953C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089887960 | 318 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.138) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.149548442A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548442A>G Locations: - p.Ser318Pro (Ensembl:ENST00000431993) - c.952T>C (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1287540615 | 319 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.312) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.149548439G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548439G>C Locations: - p.Leu319Val (Ensembl:ENST00000431993) - c.955C>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1387766872 | 321 | V>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.472) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000023.11:g.149548433C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548433C>T Locations: - p.Val321Ile (Ensembl:ENST00000431993) - c.961G>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089887792 | 324 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.251) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.149548424G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548424G>A Locations: - p.Pro324Ser (Ensembl:ENST00000431993) - c.970C>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1557348387 | 325 | N>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.503) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000023.11:g.149548419A>T Codon: AAT/AAA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548419A>T Locations: - p.Asn325Lys (Ensembl:ENST00000431993) - c.975T>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089887626 | 328 | S>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.055) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000023.11:g.149548412A>C Codon: TCT/GCT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548412A>C Locations: - p.Ser328Ala (Ensembl:ENST00000431993) - c.982T>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089887592 | 328 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.727) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.149548411G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548411G>C Locations: - p.Ser328Cys (Ensembl:ENST00000431993) - c.983C>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1325228906 | 329 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.99) Somatic: No Accession: NC_000023.11:g.149548407G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548407G>T Locations: - p.Asp329Glu (Ensembl:ENST00000431993) - c.987C>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs1436556724 | 329 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.332) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.149548408T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548408T>C Locations: - p.Asp329Gly (Ensembl:ENST00000431993) - c.986A>G (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs372261595 | 330 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000023.11:g.149548406C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548406C>T Locations: - p.Asp330Asn (Ensembl:ENST00000431993) - c.988G>A (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs372261595 | 330 | D>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.08) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.149548406C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548406C>A Locations: - p.Asp330Tyr (Ensembl:ENST00000431993) - c.988G>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: | |||||||
rs2089887316 | 333 | E>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.149548397C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: Xq28 Genomic location: NC_000023.11:g.149548397C>A Locations: - p.Glu333Ter (Ensembl:ENST00000431993) - c.997G>T (Ensembl:ENST00000431993) Source type: large scale study Cross-references: |