C9JYS8 · C9JYS8_HUMAN
- ProteinNon-POU domain containing octamer binding
- GeneNONO
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids247 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs2031304114 | 10 | E>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.71290666A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290666A>T Locations: - p.Glu10Val (Ensembl:ENST00000413858) - c.29A>T (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs769501636 | 11 | K>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.71290669A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290669A>T Locations: - p.Lys11Met (Ensembl:ENST00000413858) - c.32A>T (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs2031304309 | 13 | N>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.71290674A>C Codon: AAC/CAC Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290674A>C Locations: - p.Asn13His (Ensembl:ENST00000413858) - c.37A>C (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs1181275093 | 14 | H>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000023.11:g.71290678A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290678A>G Locations: - p.His14Arg (Ensembl:ENST00000413858) - c.41A>G (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs775392540 | 15 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000023.11:g.71290680A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290680A>G Locations: - p.Thr15Ala (Ensembl:ENST00000413858) - c.43A>G (Ensembl:ENST00000413858) Source type: large scale study | |||||||
rs1260532049 | 15 | T>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.71290681C>A Codon: ACT/AAT Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290681C>A Locations: - p.Thr15Asn (Ensembl:ENST00000413858) - c.44C>A (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs1487859388 | 16 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000023.11:g.71290684C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290684C>T Locations: - p.Pro16Leu (Ensembl:ENST00000413858) - c.47C>T (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs762648918 | 18 | K>Q | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000023.11:g.71290689A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290689A>C Locations: - p.Lys18Gln (Ensembl:ENST00000413858) - c.52A>C (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs2031304901 | 20 | H>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000023.11:g.71290696A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290696A>G Locations: - p.His20Arg (Ensembl:ENST00000413858) - c.59A>G (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs199883289 | 21 | Q>K | 1000Genomes ExAC | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.71290698C>A Codon: CAA/AAA Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290698C>A Locations: - p.Gln21Lys (Ensembl:ENST00000413858) - c.61C>A (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs1555949069 | 22 | H>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000023.11:g.71290703T>A Codon: CAT/CAA Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290703T>A Locations: - p.His22Gln (Ensembl:ENST00000413858) - c.66T>A (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
RCV001760620 rs2148032258 | 22 | H>Y | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.71290701C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290701C>T Locations: - p.His22Tyr (Ensembl:ENST00000413858) - c.64C>T (Ensembl:ENST00000413858) Source type: large scale study | |||||||
rs751479417 | 24 | H>Q | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000023.11:g.71290709C>A, NC_000023.11:g.71290709C>G Codon: CAC/CAA Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290709C>A, NC_000023.11:g.71290709C>G Locations: - p.His24Gln (Ensembl:ENST00000413858) - c.72C>A (Ensembl:ENST00000413858) - c.72C>G (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs1422041487 | 27 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.86) Somatic: No Accession: NC_000023.11:g.71290718G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290718G>T Locations: - p.Gln27His (Ensembl:ENST00000413858) - c.81G>T (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs1355091553 | 27 | Q>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000023.11:g.71290717A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290717A>T Locations: - p.Gln27Leu (Ensembl:ENST00000413858) - c.80A>T (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs1355091553 | 27 | Q>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000023.11:g.71290717A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290717A>C Locations: - p.Gln27Pro (Ensembl:ENST00000413858) - c.80A>C (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs1163981178 | 28 | H>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000023.11:g.71290720A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290720A>C Locations: - p.His28Pro (Ensembl:ENST00000413858) - c.83A>C (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs755849952 | 28 | H>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes dbSNP | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.49) Somatic: No Population frequencies: - MAF: 0.0003 (1000Genomes) Accession: NC_000023.11:g.71290721C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290721C>G Locations: - p.H28Q (NCI-TCGA:ENST00000413858) - p.His28Gln (Ensembl:ENST00000413858) - c.84C>G (Ensembl:ENST00000413858) Source type: large scale study | |||||||
rs373162525 | 28 | H>Y | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000023.11:g.71290719C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290719C>T Locations: - p.His28Tyr (Ensembl:ENST00000413858) - c.82C>T (Ensembl:ENST00000413858) Source type: large scale study | |||||||
rs2031307064 | 29 | H>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000023.11:g.71290722C>G Codon: CAC/GAC Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290722C>G Locations: - p.His29Asp (Ensembl:ENST00000413858) - c.85C>G (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs1369131708 | 29 | H>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.95) Somatic: No Accession: NC_000023.11:g.71290724C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290724C>G Locations: - p.His29Gln (Ensembl:ENST00000413858) - c.87C>G (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs2031307166 | 29 | H>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000023.11:g.71290723A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290723A>G Locations: - p.His29Arg (Ensembl:ENST00000413858) - c.86A>G (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
RCV001756789 rs2148032357 | 29-33 | HQ>QQ | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Somatic: No Accession: NC_000023.11:g.71290724_71290736delinsGCAGCAGCACCAC Codon: CACCAGCAGCAACAG/CAGCAGCAGCACCAC Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290724_71290736delinsGCAGCAGCACCAC Locations: - p.His29_Gln33delinsGlnGlnGlnHisHis (Ensembl:ENST00000413858) - c.87_99delinsGCAGCAGCACCAC (Ensembl:ENST00000413858) Source type: large scale study | |||||||
rs2031307378 | 30 | Q>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000023.11:g.71290725C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290725C>A Locations: - p.Gln30Lys (Ensembl:ENST00000413858) - c.88C>A (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs1426564608 | 32 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000023.11:g.71290733A>C Codon: CAA/CAC Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290733A>C Locations: - p.Gln32His (Ensembl:ENST00000413858) - c.96A>C (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs761988043 | 33 | Q>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000023.11:g.71290736G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290736G>C Locations: - p.Gln33His (Ensembl:ENST00000413858) - c.99G>C (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs2036121563 | 34 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.71290739G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290739G>C Locations: - p.Gln34His (Ensembl:ENST00000413858) - c.102G>C (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
CA16608924 RCV000435263 rs1057524408 | 35 | Q>* | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.71290740C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290740C>T Locations: - p.Gln35Ter (Ensembl:ENST00000413858) - c.103C>T (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
RCV001765849 rs147579344 | 35 | Q>H | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.09) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000023.11:g.71290742G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290742G>T Locations: - p.Gln35His (Ensembl:ENST00000413858) - c.105G>T (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
RCV001764023 rs767664432 | 35 | Q>P | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000023.11:g.71290741A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290741A>C Locations: - p.Gln35Pro (Ensembl:ENST00000413858) - c.104A>C (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
COSV108053765 RCV001837324 rs750695677 | 36 | P>L | Syndromic X-linked intellectual disability 34 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.06) Somatic: Yes Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000023.11:g.71290744C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290744C>T Locations: - p.Pro36Leu (Ensembl:ENST00000413858) - c.107C>T (Ensembl:ENST00000413858) Disease association: - Syndromic X-linked intellectual disability 34 (MRXS34) Source type: large scale study | |||||||
rs750695677 | 36 | P>R | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000023.11:g.71290744C>G Codon: CCG/CGG Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290744C>G Locations: - p.Pro36Arg (Ensembl:ENST00000413858) - c.107C>G (Ensembl:ENST00000413858) Source type: large scale study | |||||||
rs1359563976 | 38 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000023.11:g.71290749C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290749C>T Locations: - p.Pro38Ser (Ensembl:ENST00000413858) - c.112C>T (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
COSV52136072 rs755285551 | 39 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.04) Somatic: Yes Population frequencies: - MAF: 0.00002086 (gnomAD) Accession: NC_000023.11:g.71290753C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290753C>T Locations: - p.P39L (NCI-TCGA:ENST00000413858) - p.Pro39Leu (Ensembl:ENST00000413858) - c.116C>T (Ensembl:ENST00000413858) Source type: large scale study | |||||||
rs779407194 | 41 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000023.11:g.71290758A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290758A>G Locations: - p.Ile41Val (Ensembl:ENST00000413858) - c.121A>G (Ensembl:ENST00000413858) Source type: large scale study | |||||||
RCV000782035 rs1569238685 | 48 | A>S | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000023.11:g.71290779G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71290779G>T Locations: - p.Ala48Ser (Ensembl:ENST00000413858) - c.142G>T (Ensembl:ENST00000413858) Source type: large scale study | |||||||
rs761791698 | 52 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000023.11:g.71291779A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71291779A>G Locations: - p.Asn52Ser (Ensembl:ENST00000413858) - c.155A>G (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs2148033398 | 54 | G>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000023.11:g.71291785G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71291785G>C Locations: - p.Gly54Ala (Ensembl:ENST00000413858) - c.161G>C (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
COSV104579835 rs1204992623 | 66 | G>R | Variant of uncertain significance (Ensembl) | cosmic curated gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.71291820G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71291820G>A Locations: - p.Gly66Arg (Ensembl:ENST00000413858) - c.196G>A (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
CA413538680 RCV000523286 rs1555949212 | 68 | K>N | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.71291828G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71291828G>T Locations: - p.Lys68Asn (Ensembl:ENST00000413858) - c.204G>T (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
CA413538710 COSV52136099 RCV000497914 rs1555949215 | 73 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | Pathogenic (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.71291841C>T Codon: CGA/TGA Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71291841C>T Locations: - p.R73* (NCI-TCGA:ENST00000413858) - p.Arg73Ter (Ensembl:ENST00000413858) - c.217C>T (Ensembl:ENST00000413858) Source type: large scale study | |||||||
rs2148033456 | 81 | L>R | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.71291866T>G Codon: CTT/CGT Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71291866T>G Locations: - p.Leu81Arg (Ensembl:ENST00000413858) - c.242T>G (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs1424569380 | 83 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000023.11:g.71291872C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71291872C>T Locations: - p.Pro83Leu (Ensembl:ENST00000413858) - c.248C>T (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs2148033479 | 84 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.71291876C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71291876C>A Locations: - p.Asp84Glu (Ensembl:ENST00000413858) - c.252C>A (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs1199398813 | 90 | M>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000023.11:g.71291892A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71291892A>G Locations: - p.Met90Val (Ensembl:ENST00000413858) - c.268A>G (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs760667595 | 94 | F>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.71291905T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71291905T>C Locations: - p.Phe94Ser (Ensembl:ENST00000413858) - c.281T>C (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs766682075 | 95 | E>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.481) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000023.11:g.71291907G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71291907G>C Locations: - p.Glu95Gln (Ensembl:ENST00000413858) - c.283G>C (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs1423281770 | 102 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.217) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.71291929A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71291929A>G Locations: - p.Glu102Gly (Ensembl:ENST00000413858) - c.305A>G (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs897862417 | 107 | K>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.481) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.71291945G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71291945G>C Locations: - p.Lys107Asn (Ensembl:ENST00000413858) - c.321G>C (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
COSV52138218 rs2031336069 | 115 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.665) - SIFT: tolerated (0.13) Somatic: Yes Accession: NC_000023.11:g.71291968G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71291968G>A Locations: - p.R115H (NCI-TCGA:ENST00000413858) - p.Arg115His (Ensembl:ENST00000413858) - c.344G>A (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs989311179 | 127 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.71294257G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71294257G>A Locations: - p.Val127Met (Ensembl:ENST00000413858) - c.379G>A (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs2031388452 | 132 | M>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000023.11:g.71294273T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71294273T>C Locations: - p.Met132Thr (Ensembl:ENST00000413858) - c.395T>C (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
CA331033409 COSV99338615 RCV000523140 rs1016039382 rs1016039382,COSV99338615 | 135 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA Cosmic cosmic curated ClinVar dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.14) Somatic: Yes Accession: NC_000023.11:g.71294281C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71294281C>T Locations: - p.R135C (NCI-TCGA:ENST00000413858) - p.Arg135Cys (Ensembl:ENST00000413858) - c.403C>T (Ensembl:ENST00000413858) Source type: large scale study | |||||||
rs1016039382 | 135 | R>S | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000023.11:g.71294281C>A Codon: CGT/AGT Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71294281C>A Locations: - p.Arg135Ser (Ensembl:ENST00000413858) - c.403C>A (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs897549536 | 144 | A>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000023.11:g.71294308G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71294308G>C Locations: - p.Ala144Pro (Ensembl:ENST00000413858) - c.430G>C (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs897549536 | 144 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.86) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000023.11:g.71294308G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71294308G>T Locations: - p.Ala144Ser (Ensembl:ENST00000413858) - c.430G>T (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs2031389188 | 149 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.71294324C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71294324C>G Locations: - p.Ser149Cys (Ensembl:ENST00000413858) - c.446C>G (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs774336123 | 151 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000023.11:g.71294330C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71294330C>T Locations: - p.Thr151Ile (Ensembl:ENST00000413858) - c.452C>T (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
COSV52136808 COSV52137188 RCV001034531 rs2031389522 | 153 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) Syndromic X-linked intellectual disability 34 (ClinVar) | Pathogenic (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: Yes Accession: NC_000023.11:g.71294335C>T Codon: CGA/TGA Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71294335C>T Locations: - p.R153* (NCI-TCGA:ENST00000413858) - p.Arg153Ter (Ensembl:ENST00000413858) - c.457C>T (Ensembl:ENST00000413858) Disease association: - Syndromic X-linked intellectual disability 34 (MRXS34) Source type: large scale study | |||||||
COSV52137403 rs1477854068 | 153 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.509) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000023.11:g.71294336G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71294336G>A Locations: - p.R153Q (NCI-TCGA:ENST00000413858) - p.Arg153Gln (Ensembl:ENST00000413858) - c.458G>A (Ensembl:ENST00000413858) Source type: large scale study | |||||||
rs370166066 | 157 | Q>R | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000023.11:g.71294348A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71294348A>G Locations: - p.Gln157Arg (Ensembl:ENST00000413858) - c.470A>G (Ensembl:ENST00000413858) Source type: large scale study | |||||||
rs2031463622 | 168 | P>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.71296883C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71296883C>G Locations: - p.Pro168Arg (Ensembl:ENST00000413858) - c.503C>G (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs2148038811 | 174 | E>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.71296900G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71296900G>T Locations: - p.Glu174Ter (Ensembl:ENST00000413858) - c.520G>T (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
RCV000850284 rs1602389542 | 178 | R>C | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.168) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000023.11:g.71296912C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71296912C>T Locations: - p.Arg178Cys (Ensembl:ENST00000413858) - c.532C>T (Ensembl:ENST00000413858) Source type: large scale study | |||||||
rs2148038829 | 187 | K>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.894) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000023.11:g.71296941G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71296941G>T Locations: - p.Lys187Asn (Ensembl:ENST00000413858) - c.561G>T (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs1349789650 | 188 | Q>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.255) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000023.11:g.71296942C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71296942C>G Locations: - p.Gln188Glu (Ensembl:ENST00000413858) - c.562C>G (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs1462203764 | 191 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.94) Somatic: No Accession: NC_000023.11:g.71296953C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71296953C>G Locations: - p.Asp191Glu (Ensembl:ENST00000413858) - c.573C>G (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs11544180 | 201 | R>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.71296981C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71296981C>T Locations: - p.Arg201Cys (Ensembl:ENST00000413858) - c.601C>T (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
RCV001764126 rs2148038877 | 202 | E>Q | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.95) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000023.11:g.71296984G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71296984G>C Locations: - p.Glu202Gln (Ensembl:ENST00000413858) - c.604G>C (Ensembl:ENST00000413858) Source type: large scale study | |||||||
rs2031465230 | 206 | M>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.71) Somatic: No Accession: NC_000023.11:g.71296997T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71296997T>C Locations: - p.Met206Thr (Ensembl:ENST00000413858) - c.617T>C (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs1180672827 | 207 | E>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000023.11:g.71297000A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71297000A>C Locations: - p.Glu207Ala (Ensembl:ENST00000413858) - c.620A>C (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
COSV99338687 rs1437211512 rs1437211512,COSV99338687 | 207 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.71296999G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71296999G>A Locations: - p.E207K (NCI-TCGA:ENST00000413858) - p.Glu207Lys (Ensembl:ENST00000413858) - c.619G>A (Ensembl:ENST00000413858) Source type: large scale study | |||||||
rs1171596448 | 208 | M>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.097) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.71297004G>C Codon: ATG/ATC Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71297004G>C Locations: - p.Met208Ile (Ensembl:ENST00000413858) - c.624G>C (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
RCV002265388 rs1370808843 | 208 | M>L | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000023.11:g.71297002A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71297002A>T Locations: - p.Met208Leu (Ensembl:ENST00000413858) - c.622A>T (Ensembl:ENST00000413858) Source type: large scale study | |||||||
rs1370808843 | 208 | M>V | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.212) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.71297002A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71297002A>G Locations: - p.Met208Val (Ensembl:ENST00000413858) - c.622A>G (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs926515338 | 210 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.137) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000023.11:g.71297008G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71297008G>T Locations: - p.Ala210Ser (Ensembl:ENST00000413858) - c.628G>T (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs11544181 | 217 | V>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.901) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.71297029G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71297029G>T Locations: - p.Val217Phe (Ensembl:ENST00000413858) - c.649G>T (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs2031467055 | 218 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.481) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000023.11:g.71297034G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71297034G>T Locations: - p.Met218Ile (Ensembl:ENST00000413858) - c.654G>T (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs2031466941 | 218 | M>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.137) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000023.11:g.71297033T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71297033T>C Locations: - p.Met218Thr (Ensembl:ENST00000413858) - c.653T>C (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs1470300814 | 219 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.71297036T>C Codon: CTA/CCA Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71297036T>C Locations: - p.Leu219Pro (Ensembl:ENST00000413858) - c.656T>C (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs752423735 | 222 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.45) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000023.11:g.71297045A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71297045A>G Locations: - p.Gln222Arg (Ensembl:ENST00000413858) - c.665A>G (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
COSV52137681 rs2031476606 | 227 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.09) Somatic: Yes Accession: NC_000023.11:g.71297388C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71297388C>T Locations: - p.R227C (NCI-TCGA:ENST00000413858) - p.Arg227Cys (Ensembl:ENST00000413858) - c.679C>T (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs1385319506 | 229 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.178) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.71297394G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71297394G>A Locations: - p.Glu229Lys (Ensembl:ENST00000413858) - c.685G>A (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs2031476919 | 230 | E>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.71297397G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71297397G>C Locations: - p.Glu230Gln (Ensembl:ENST00000413858) - c.688G>C (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
COSV52139016 rs749334644 | 232 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000023.11:g.71297404G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71297404G>A Locations: - p.R232Q (NCI-TCGA:ENST00000413858) - p.Arg232Gln (Ensembl:ENST00000413858) - c.695G>A (Ensembl:ENST00000413858) Source type: large scale study | |||||||
rs867623149 | 237 | L>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.959) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000023.11:g.71297418C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71297418C>A Locations: - p.Leu237Met (Ensembl:ENST00000413858) - c.709C>A (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
CA413545981 RCV000490223 rs1085307870 | 245 | R>* | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: stop gained Somatic: No Accession: NC_000023.11:g.71297442C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71297442C>T Locations: - p.Arg245Ter (Ensembl:ENST00000413858) - c.733C>T (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs866192079 | 245 | R>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.886) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000023.11:g.71297443G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71297443G>A Locations: - p.Arg245Gln (Ensembl:ENST00000413858) - c.734G>A (Ensembl:ENST00000413858) Source type: large scale study Cross-references: | |||||||
rs1225687425 | 247 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.864) - SIFT: deleterious (0) Somatic: No Accession: NC_000023.11:g.71297450A>C Codon: CAA/CAC Consequence type: missense Cytogenetic band: Xq13.1 Genomic location: NC_000023.11:g.71297450A>C Locations: - p.Gln247His (Ensembl:ENST00000413858) - c.741A>C (Ensembl:ENST00000413858) Source type: large scale study Cross-references: |