Q969G6 · RIFK_HUMAN
- ProteinRiboflavin kinase
- GeneRFK
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids155 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1419655788 | 2 | R>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated - low confidence (0.76) Somatic: No Accession: NC_000009.12:g.76394167C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76394167C>T Locations: - p.Arg2Lys (Ensembl:ENST00000376736) - c.5G>A (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1419655788 | 2 | R>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.155) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000009.12:g.76394167C>G Codon: AGG/ACG Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76394167C>G Locations: - p.Arg2Thr (Ensembl:ENST00000376736) - c.5G>C (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
COSV100946894 rs1822859719 | 3 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.63) - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.2) Somatic: Yes Accession: NC_000009.12:g.76394165G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76394165G>A Locations: - p.H3Y (NCI-TCGA:ENST00000376736) - p.His3Tyr (Ensembl:ENST00000376736) - c.7C>T (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs778987119 | 4 | L>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.76394161A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76394161A>T Locations: - p.Leu4Gln (Ensembl:ENST00000376736) - c.11T>A (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1359226551 | 4 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.499) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.76394162G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76394162G>C Locations: - p.Leu4Val (Ensembl:ENST00000376736) - c.10C>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1185699154 | 5 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.76394158G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76394158G>A Locations: - p.Pro5Leu (Ensembl:ENST00000376736) - c.14C>T (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1368245269 | 5 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.632) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000009.12:g.76394159G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76394159G>A Locations: - p.Pro5Ser (Ensembl:ENST00000376736) - c.13C>T (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1587393508 | 6 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.075) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.76394155T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76394155T>C Locations: - p.Tyr6Cys (Ensembl:ENST00000376736) - c.17A>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs777573559 | 7 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.636) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.76394151G>T Codon: TTC/TTA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76394151G>T Locations: - p.Phe7Leu (Ensembl:ENST00000376736) - c.21C>A (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs148289048 | 7 | F>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.582) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.76394153A>C Codon: TTC/GTC Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76394153A>C Locations: - p.Phe7Val (Ensembl:ENST00000376736) - c.19T>G (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs755185531 | 8 | C>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.76394148G>T Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76394148G>T Locations: - p.Cys8Ter (Ensembl:ENST00000376736) - c.24C>A (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs755185531 | 8 | C>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.62) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.76394148G>C Codon: TGC/TGG Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76394148G>C Locations: - p.Cys8Trp (Ensembl:ENST00000376736) - c.24C>G (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs1192993724 | 8 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.76394149C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76394149C>T Locations: - p.Cys8Tyr (Ensembl:ENST00000376736) - c.23G>A (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1282126647 | 9 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.271) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000009.12:g.76394147G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76394147G>C Locations: - p.Arg9Gly (Ensembl:ENST00000376736) - c.25C>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1282126647 | 9 | R>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.76394147G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76394147G>A Locations: - p.Arg9Trp (Ensembl:ENST00000376736) - c.25C>T (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1351217661 | 10 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.447) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.76394143C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76394143C>T Locations: - p.Gly10Asp (Ensembl:ENST00000376736) - c.29G>A (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1206810349 | 10 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.681) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000009.12:g.76394144C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76394144C>T Locations: - p.Gly10Ser (Ensembl:ENST00000376736) - c.28G>A (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs558211577 | 13 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.262) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.76394135C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76394135C>T Locations: - p.Val13Met (Ensembl:ENST00000376736) - c.37G>A (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs750435495 | 15 | G>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.76394128C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76394128C>T Locations: - p.Gly15Asp (Ensembl:ENST00000376736) - c.44G>A (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
COSV100946901 | 15 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000009.12:g.76394129C>T Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76394129C>T Locations: - c.43G>A (NCI-TCGA:ENST00000376736) - p.G15S (NCI-TCGA:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs2131556214 | 17 | G>D | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.76394122C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76394122C>T Locations: - p.Gly17Asp (Ensembl:ENST00000376736) - c.50G>A (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs775229261 | 17 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.732) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000009.12:g.76394123C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76394123C>T Locations: - p.Gly17Ser (Ensembl:ENST00000376736) - c.49G>A (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs985045404 | 18 | R>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.76394120G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76394120G>A Locations: - p.Arg18Cys (Ensembl:ENST00000376736) - c.52C>T (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs368029943 | 19 | G>S | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000009.12:g.76394117C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76394117C>T Locations: - p.Gly19Ser (Ensembl:ENST00000376736) - c.55G>A (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs1320924838 | 20 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.893) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.76394113G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76394113G>A Locations: - p.Ser20Phe (Ensembl:ENST00000376736) - c.59C>T (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs762009128 | 21 | K>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.76394111T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76394111T>C Locations: - p.Lys21Glu (Ensembl:ENST00000376736) - c.61A>G (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs776692015 | 21 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.296) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000009.12:g.76394110T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76394110T>C Locations: - p.Lys21Arg (Ensembl:ENST00000376736) - c.62A>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs147845416 | 25 | I>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.76394099T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76394099T>C Locations: - p.Ile25Val (Ensembl:ENST00000376736) - c.73A>G (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs1242976223 | 27 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.76394092G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76394092G>A Locations: - p.Thr27Ile (Ensembl:ENST00000376736) - c.80C>T (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1418902208 | 28 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.639) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.76394090C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76394090C>A Locations: - p.Ala28Ser (Ensembl:ENST00000376736) - c.82G>T (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1306923627 | 33 | Q>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.76392555G>A Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392555G>A Locations: - p.Gln33Ter (Ensembl:ENST00000376736) - c.97C>T (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs2131555244 | 35 | V>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.036) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.76392549C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392549C>T Locations: - p.Val35Ile (Ensembl:ENST00000376736) - c.103G>A (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1329762819 | 37 | N>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000009.12:g.76392543T>C Codon: AAT/GAT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392543T>C Locations: - p.Asn37Asp (Ensembl:ENST00000376736) - c.109A>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1822832021 | 38 | L>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.62) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.76392540G>T Codon: CTT/ATT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392540G>T Locations: - p.Leu38Ile (Ensembl:ENST00000376736) - c.112C>A (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs114769939 | 39 | P>S | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.662) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.76392537G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392537G>A Locations: - p.Pro39Ser (Ensembl:ENST00000376736) - c.115C>T (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1587392593 | 40 | A>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000009.12:g.76392534C>G Codon: GCT/CCT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392534C>G Locations: - p.Ala40Pro (Ensembl:ENST00000376736) - c.118G>C (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1822831909 | 41 | D>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.172) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.76392530T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392530T>C Locations: - p.Asp41Gly (Ensembl:ENST00000376736) - c.122A>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1029368045 | 42 | I>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000009.12:g.76392528T>G Codon: ATA/CTA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392528T>G Locations: - p.Ile42Leu (Ensembl:ENST00000376736) - c.124A>C (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1171686218 | 42 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.295) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000009.12:g.76392526T>C Codon: ATA/ATG Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392526T>C Locations: - p.Ile42Met (Ensembl:ENST00000376736) - c.126A>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1264348624 | 42 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.385) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.76392527A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392527A>G Locations: - p.Ile42Thr (Ensembl:ENST00000376736) - c.125T>C (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1029368045 | 42 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000009.12:g.76392528T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392528T>C Locations: - p.Ile42Val (Ensembl:ENST00000376736) - c.124A>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs149077765 | 43 | S>F | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.772) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.76392524G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392524G>A Locations: - p.Ser43Phe (Ensembl:ENST00000376736) - c.128C>T (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs772792336 | 44 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.76392521G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392521G>A Locations: - p.Thr44Ile (Ensembl:ENST00000376736) - c.131C>T (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs772792336 | 44 | T>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.141) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.76392521G>C Codon: ACT/AGT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392521G>C Locations: - p.Thr44Ser (Ensembl:ENST00000376736) - c.131C>G (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs1260439895 | 45 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.76392519C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392519C>T Locations: - p.Gly45Ser (Ensembl:ENST00000376736) - c.133G>A (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs144954559 | 46 | I>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.139) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000009.12:g.76392516T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392516T>C Locations: - p.Ile46Val (Ensembl:ENST00000376736) - c.136A>G (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs780879395 | 47 | Y>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.76392512T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392512T>C Locations: - p.Tyr47Cys (Ensembl:ENST00000376736) - c.140A>G (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs1468385326 | 48 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.7) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000009.12:g.76392509T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392509T>C Locations: - p.Tyr48Cys (Ensembl:ENST00000376736) - c.143A>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1204761697 | 49 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.76392507C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392507C>T Locations: - p.Gly49Ser (Ensembl:ENST00000376736) - c.145G>A (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1441406029 | 49 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.76392506C>A Codon: GGT/GTT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392506C>A Locations: - p.Gly49Val (Ensembl:ENST00000376736) - c.146G>T (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
COSV100946913 | 52 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.446) - SIFT: tolerated (0.34) Somatic: Yes Accession: NC_000009.12:g.76392498T>A Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392498T>A Locations: - c.154A>T (NCI-TCGA:ENST00000376736) - p.S52C (NCI-TCGA:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1213661469 | 52 | S>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.699) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000009.12:g.76392498T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392498T>C Locations: - p.Ser52Gly (Ensembl:ENST00000376736) - c.154A>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs368542122 | 52 | S>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.831) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.76392497C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392497C>A Locations: - p.Ser52Ile (Ensembl:ENST00000376736) - c.155G>T (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs776497053 | 53 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.075) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.76392495C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392495C>T Locations: - p.Val53Ile (Ensembl:ENST00000376736) - c.157G>A (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs374353965 | 54 | G>E | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.76392491C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392491C>T Locations: - p.Gly54Glu (Ensembl:ENST00000376736) - c.161G>A (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs757800464 | 54 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.688) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.76392492C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392492C>T Locations: - p.Gly54Arg (Ensembl:ENST00000376736) - c.160G>A (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs200627906 | 59 | H>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.3) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.76392476T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392476T>C Locations: - p.His59Arg (Ensembl:ENST00000376736) - c.176A>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs149893787 | 61 | M>T | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.733) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.76392470A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392470A>G Locations: - p.Met61Thr (Ensembl:ENST00000376736) - c.182T>C (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs1822830768 | 63 | V>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.76392465C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392465C>T Locations: - p.Val63Met (Ensembl:ENST00000376736) - c.187G>A (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1822830706 | 65 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.139) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000009.12:g.76392459T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392459T>C Locations: - p.Ile65Val (Ensembl:ENST00000376736) - c.193A>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
COSV100946884 | 68 | N>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.946) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000009.12:g.76392450T>C Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392450T>C Locations: - c.202A>G (NCI-TCGA:ENST00000376736) - p.N68D (NCI-TCGA:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs753797803 | 69 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.726) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.76392446G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392446G>A Locations: - p.Pro69Leu (Ensembl:ENST00000376736) - c.206C>T (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs753797803 | 69 | P>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.76392446G>C Codon: CCA/CGA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392446G>C Locations: - p.Pro69Arg (Ensembl:ENST00000376736) - c.206C>G (Ensembl:ENST00000376736) Source type: large scale study | |||||||
TCGA novel | 69 | P>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.76392447G>T Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392447G>T Locations: - c.205C>A (NCI-TCGA:ENST00000376736) - p.P69T (NCI-TCGA:ENST00000376736) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs756323752 | 70 | Y>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.859) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.76392444A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392444A>G Locations: - p.Tyr70His (Ensembl:ENST00000376736) - c.208T>C (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs1822830516 | 72 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.76392437T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392437T>C Locations: - p.Lys72Arg (Ensembl:ENST00000376736) - c.215A>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1822830483 | 73 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.76392434T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392434T>C Locations: - p.Asn73Ser (Ensembl:ENST00000376736) - c.218A>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1822830442 | 74 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000009.12:g.76392432T>C Codon: ACG/GCG Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392432T>C Locations: - p.Thr74Ala (Ensembl:ENST00000376736) - c.220A>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs752946979 | 74 | T>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.397) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000009.12:g.76392431G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392431G>A Locations: - p.Thr74Met (Ensembl:ENST00000376736) - c.221C>T (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs1409885260 | 75 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.76392427C>G, NC_000009.12:g.76392427C>A Codon: AAG/AAC Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392427C>G, NC_000009.12:g.76392427C>A Locations: - p.Lys75Asn (Ensembl:ENST00000376736) - c.225G>C (Ensembl:ENST00000376736) - c.225G>T (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs751392557 | 77 | S>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.76392423A>T Codon: TCT/ACT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392423A>T Locations: - p.Ser77Thr (Ensembl:ENST00000376736) - c.229T>A (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs773089459 | 78 | M>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.76392418C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392418C>T Locations: - p.Met78Ile (Ensembl:ENST00000376736) - c.234G>A (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs78648454 | 78 | M>V | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.135) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000009.12:g.76392420T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76392420T>C Locations: - p.Met78Val (Ensembl:ENST00000376736) - c.232A>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs968551670 | 80 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.276) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.76388653T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388653T>C Locations: - p.Thr80Ala (Ensembl:ENST00000376736) - c.238A>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
TCGA novel rs1822775532 | 80 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.229) - SIFT: deleterious (0.01) - PolyPhen: possibly damaging (0.851) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000009.12:g.76388652G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388652G>A Locations: - p.T80I (NCI-TCGA:ENST00000376736) - p.Thr80Ile (Ensembl:ENST00000376736) - c.239C>T (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs771307255 | 81 | H>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.76388648A>T Codon: CAT/CAA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388648A>T Locations: - p.His81Gln (Ensembl:ENST00000376736) - c.243T>A (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs770448828 | 83 | M>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.76388642C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388642C>T Locations: - p.Met83Ile (Ensembl:ENST00000376736) - c.249G>A (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs773731982 | 83 | M>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.629) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.76388643A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388643A>G Locations: - p.Met83Thr (Ensembl:ENST00000376736) - c.248T>C (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1327502016 | 83 | M>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.181) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.76388644T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388644T>C Locations: - p.Met83Val (Ensembl:ENST00000376736) - c.247A>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs201712160 | 84 | H>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.885) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.76388640T>A Codon: CAT/CTT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388640T>A Locations: - p.His84Leu (Ensembl:ENST00000376736) - c.251A>T (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs201712160 | 84 | H>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.76388640T>G Codon: CAT/CCT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388640T>G Locations: - p.His84Pro (Ensembl:ENST00000376736) - c.251A>C (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs781425999 | 84 | H>Q | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.76388639A>T Codon: CAT/CAA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388639A>T Locations: - p.His84Gln (Ensembl:ENST00000376736) - c.252T>A (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs201712160 | 84 | H>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.885) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.76388640T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388640T>C Locations: - p.His84Arg (Ensembl:ENST00000376736) - c.251A>G (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs755175705 | 85 | T>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.291) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000009.12:g.76388637G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388637G>C Locations: - p.Thr85Ser (Ensembl:ENST00000376736) - c.254C>G (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs1822774870 | 86 | F>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.76388634A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388634A>G Locations: - p.Phe86Ser (Ensembl:ENST00000376736) - c.257T>C (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1453041044 | 89 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.268) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.76388624G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388624G>C Locations: - p.Asp89Glu (Ensembl:ENST00000376736) - c.267C>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs150730969 | 89 | D>N | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.339) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.76388626C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388626C>T Locations: - p.Asp89Asn (Ensembl:ENST00000376736) - c.265G>A (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs1822774661 | 90 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.486) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000009.12:g.76388621G>C Codon: TTC/TTG Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388621G>C Locations: - p.Phe90Leu (Ensembl:ENST00000376736) - c.270C>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1255213808 | 90 | F>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.76388623A>C Codon: TTC/GTC Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388623A>C Locations: - p.Phe90Val (Ensembl:ENST00000376736) - c.268T>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs747240529 | 91 | Y>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.76388619T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388619T>C Locations: - p.Tyr91Cys (Ensembl:ENST00000376736) - c.272A>G (Ensembl:ENST00000376736) Source type: large scale study | |||||||
TCGA novel | 93 | E>G | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000009.12:g.76388613_76388614insC Consequence type: frameshift Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388613_76388614insC Locations: - c.277dup (NCI-TCGA:ENST00000376736) - p.E93Gfs*18 (NCI-TCGA:ENST00000376736) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs367669638 | 94 | I>T | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.839) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000009.12:g.76388610A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388610A>G Locations: - p.Ile94Thr (Ensembl:ENST00000376736) - c.281T>C (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs1308136544 | 96 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.391) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.76388605T>C Codon: AAT/GAT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388605T>C Locations: - p.Asn96Asp (Ensembl:ENST00000376736) - c.286A>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1398318982 | 96 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.76388604T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388604T>C Locations: - p.Asn96Ser (Ensembl:ENST00000376736) - c.287A>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs17845105 | 97 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.635) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.76388601A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388601A>G Locations: - p.Val97Ala (Ensembl:ENST00000376736) - c.290T>C (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs17845105 | 97 | V>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.76388601A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388601A>C Locations: - p.Val97Gly (Ensembl:ENST00000376736) - c.290T>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs753275204 | 98 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.158) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.76388599C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388599C>T Locations: - p.Ala98Thr (Ensembl:ENST00000376736) - c.292G>A (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs1305292436 | 98 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.76388598G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388598G>A Locations: - p.Ala98Val (Ensembl:ENST00000376736) - c.293C>T (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
COSV65060848 | 100 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.099) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000009.12:g.76388592A>G Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388592A>G Locations: - c.299T>C (NCI-TCGA:ENST00000376736) - p.V100A (NCI-TCGA:ENST00000376736) Source type: large scale study Cross-references: | |||||||
TCGA novel | 104 | R>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.76388580C>T Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388580C>T Locations: - c.311G>A (NCI-TCGA:ENST00000376736) - p.R104K (NCI-TCGA:ENST00000376736) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1036068570 | 105 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.76388577G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388577G>A Locations: - p.Pro105Leu (Ensembl:ENST00000376736) - c.314C>T (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
COSV65060732 rs76023381 | 107 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.702) - SIFT: tolerated (0.09) - PolyPhen: possibly damaging (0.858) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000009.12:g.76388570C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388570C>A Locations: - p.K107N (NCI-TCGA:ENST00000376736) - p.Lys107Asn (Ensembl:ENST00000376736) - c.321G>T (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1272212207 | 108 | N>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.312) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.76388567G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388567G>T Locations: - p.Asn108Lys (Ensembl:ENST00000376736) - c.324C>A (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs2131553452 | 108 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.097) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000009.12:g.76388568T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388568T>C Locations: - p.Asn108Ser (Ensembl:ENST00000376736) - c.323A>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs775179444 | 109 | F>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.76388565A>G Codon: TTT/TCT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388565A>G Locations: - p.Phe109Ser (Ensembl:ENST00000376736) - c.326T>C (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
COSV100946909 | 110 | D>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.33) Somatic: Yes Accession: NC_000009.12:g.76388561A>T Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388561A>T Locations: - c.330T>A (NCI-TCGA:ENST00000376736) - p.D110E (NCI-TCGA:ENST00000376736) Source type: large scale study Cross-references: | |||||||
COSV65061101 | 111 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000009.12:g.76388559G>T Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388559G>T Locations: - c.332C>A (NCI-TCGA:ENST00000376736) - p.S111Y (NCI-TCGA:ENST00000376736) Source type: large scale study Cross-references: | |||||||
TCGA novel | 112 | L>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000009.12:g.76388556del Consequence type: frameshift Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388556del Locations: - c.335del (NCI-TCGA:ENST00000376736) - p.L112* (NCI-TCGA:ENST00000376736) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs140199557 | 112 | L>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.76388556A>G Codon: TTA/TCA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76388556A>G Locations: - p.Leu112Ser (Ensembl:ENST00000376736) - c.335T>C (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs767141912 | 114 | S>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.572) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.76387526G>A Codon: TCA/TTA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387526G>A Locations: - p.Ser114Leu (Ensembl:ENST00000376736) - c.341C>T (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1324145446 | 116 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.76387520A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387520A>G Locations: - p.Ile116Thr (Ensembl:ENST00000376736) - c.347T>C (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs564478804 | 117 | S>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.065) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.76387517G>A Codon: TCA/TTA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387517G>A Locations: - p.Ser117Leu (Ensembl:ENST00000376736) - c.350C>T (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1002661496 | 118 | A>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.399) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.76387515C>G Codon: GCA/CCA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387515C>G Locations: - p.Ala118Pro (Ensembl:ENST00000376736) - c.352G>C (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1002661496 | 118 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.892) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.76387515C>A Codon: GCA/TCA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387515C>A Locations: - p.Ala118Ser (Ensembl:ENST00000376736) - c.352G>T (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs765682532 | 118 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.315) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.76387514G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387514G>A Locations: - p.Ala118Val (Ensembl:ENST00000376736) - c.353C>T (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs906954735 | 119 | I>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.76387511A>C Codon: ATT/AGT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387511A>C Locations: - p.Ile119Ser (Ensembl:ENST00000376736) - c.356T>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs762317040 | 120 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.76387509G>A Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387509G>A Locations: - p.Gln120Ter (Ensembl:ENST00000376736) - c.358C>T (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1474450532 | 121 | G>S | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000009.12:g.76387506C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387506C>T Locations: - p.Gly121Ser (Ensembl:ENST00000376736) - c.361G>A (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
COSV65060706 | 122 | D>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000009.12:g.76387502T>A Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387502T>A Locations: - c.365A>T (NCI-TCGA:ENST00000376736) - p.D122V (NCI-TCGA:ENST00000376736) Source type: large scale study Cross-references: | |||||||
COSV65061203 rs1822754315 | 123 | I>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.902) - SIFT: deleterious (0.04) - PolyPhen: probably damaging (0.913) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000009.12:g.76387499A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387499A>G Locations: - p.I123T (NCI-TCGA:ENST00000376736) - p.Ile123Thr (Ensembl:ENST00000376736) - c.368T>C (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1822754176 | 126 | A>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.76387490G>T Codon: GCT/GAT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387490G>T Locations: - p.Ala126Asp (Ensembl:ENST00000376736) - c.377C>A (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1013183068 | 126 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.668) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000009.12:g.76387491C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387491C>T Locations: - p.Ala126Thr (Ensembl:ENST00000376736) - c.376G>A (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1822754046 | 129 | R>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.76387482G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387482G>A Locations: - p.Arg129Ter (Ensembl:ENST00000376736) - c.385C>T (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs146146902 | 129 | R>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000009.12:g.76387481C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387481C>A Locations: - p.Arg129Leu (Ensembl:ENST00000376736) - c.386G>T (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs146146902 | 129 | R>Q | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.76387481C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387481C>T Locations: - p.Arg129Gln (Ensembl:ENST00000376736) - c.386G>A (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs776717989 | 130 | L>I | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.76387479G>T Codon: CTA/ATA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387479G>T Locations: - p.Leu130Ile (Ensembl:ENST00000376736) - c.388C>A (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs746082841 | 131 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.76387474C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387474C>G Locations: - p.Glu131Asp (Ensembl:ENST00000376736) - c.393G>C (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs376265828 | 133 | P>L | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.76387469G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387469G>A Locations: - p.Pro133Leu (Ensembl:ENST00000376736) - c.398C>T (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs376265828 | 133 | P>Q | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.496) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.76387469G>T Codon: CCA/CAA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387469G>T Locations: - p.Pro133Gln (Ensembl:ENST00000376736) - c.398C>A (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs376265828 | 133 | P>R | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.756) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.76387469G>C Codon: CCA/CGA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387469G>C Locations: - p.Pro133Arg (Ensembl:ENST00000376736) - c.398C>G (Ensembl:ENST00000376736) Source type: large scale study | |||||||
TCGA novel | 134 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000009.12:g.76387465T>G Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387465T>G Locations: - c.402A>C (NCI-TCGA:ENST00000376736) - p.E134D (NCI-TCGA:ENST00000376736) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1822753433 | 135 | H>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.76387463T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387463T>C Locations: - p.His135Arg (Ensembl:ENST00000376736) - c.404A>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs756021800 | 136 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000009.12:g.76387459C>G Codon: TTG/TTC Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387459C>G Locations: - p.Leu136Phe (Ensembl:ENST00000376736) - c.408G>C (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs777639941 | 136 | L>W | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.617) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.76387460A>C Codon: TTG/TGG Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387460A>C Locations: - p.Leu136Trp (Ensembl:ENST00000376736) - c.407T>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
TCGA novel | 137 | K>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.618) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.76387457T>G Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387457T>G Locations: - c.410A>C (NCI-TCGA:ENST00000376736) - p.K137T (NCI-TCGA:ENST00000376736) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1370738938 | 139 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000009.12:g.76387451T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387451T>C Locations: - p.Lys139Arg (Ensembl:ENST00000376736) - c.416A>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
COSV65061245 | 141 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.1) Somatic: Yes Accession: NC_000009.12:g.76387446C>T Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387446C>T Locations: - c.421G>A (NCI-TCGA:ENST00000376736) - p.D141N (NCI-TCGA:ENST00000376736) Source type: large scale study Cross-references: | |||||||
TCGA novel rs1822753134 | 142 | N>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.1) - PolyPhen: benign (0) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000009.12:g.76387442T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387442T>C Locations: - p.N142S (NCI-TCGA:ENST00000376736) - p.Asn142Ser (Ensembl:ENST00000376736) - c.425A>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1331942192 | 143 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.76387438G>T Codon: TTC/TTA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387438G>T Locations: - p.Phe143Leu (Ensembl:ENST00000376736) - c.429C>A (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1587390193 | 146 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000009.12:g.76387430A>G Codon: GTT/GCT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387430A>G Locations: - p.Val146Ala (Ensembl:ENST00000376736) - c.437T>C (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1822753001 | 149 | S>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.196) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.76387421C>A Codon: AGC/ATC Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387421C>A Locations: - p.Ser149Ile (Ensembl:ENST00000376736) - c.446G>T (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
COSV65060870 | 149 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.48) Somatic: Yes Accession: NC_000009.12:g.76387421C>T Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387421C>T Locations: - c.446G>A (NCI-TCGA:ENST00000376736) - p.S149N (NCI-TCGA:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1822752947 | 151 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.142) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.76387416T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387416T>C Locations: - p.Ile151Val (Ensembl:ENST00000376736) - c.451A>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1328411135 | 152 | M>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.393) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.76387412A>T Codon: ATG/AAG Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387412A>T Locations: - p.Met152Lys (Ensembl:ENST00000376736) - c.455T>A (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs370201390 | 152 | M>V | ESP | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.5) Somatic: No Accession: NC_000009.12:g.76387413T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387413T>C Locations: - p.Met152Val (Ensembl:ENST00000376736) - c.454A>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs1822752813 | 153 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.505) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.76387410T>C Codon: AAT/GAT Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387410T>C Locations: - p.Asn153Asp (Ensembl:ENST00000376736) - c.457A>G (Ensembl:ENST00000376736) Source type: large scale study Cross-references: | |||||||
rs754574191 | 155 | H>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.465) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.76387403T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387403T>C Locations: - p.His155Arg (Ensembl:ENST00000376736) - c.464A>G (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs780563876 | 155 | H>Y | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.76387404G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387404G>A Locations: - p.His155Tyr (Ensembl:ENST00000376736) - c.463C>T (Ensembl:ENST00000376736) Source type: large scale study | |||||||
rs947917407 | 156 | *>R | TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000009.12:g.76387401A>G Codon: TGA/CGA Consequence type: stop lost Cytogenetic band: 9q21.13 Genomic location: NC_000009.12:g.76387401A>G Locations: - p.Ter156ArgextTer1 (Ensembl:ENST00000376736) - c.466T>C (Ensembl:ENST00000376736) Source type: large scale study Cross-references: |