A0A140TA09 · A0A140TA09_HUMAN
- ProteinE3 ubiquitin-protein ligase RNF
- GeneRNF5
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1239731185 | 2 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.191) - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NT_167249.2:g.3494722G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494722G>T Locations: - p.Ala2Ser (Ensembl:ENST00000472060) - c.4G>T (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs1239731185 | 2 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.191) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NT_167249.2:g.3494722G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494722G>A Locations: - p.Ala2Thr (Ensembl:ENST00000472060) - c.4G>A (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs1785789571 | 2 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.191) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NT_167249.2:g.3494723C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494723C>T Locations: - p.Ala2Val (Ensembl:ENST00000472060) - c.5C>T (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs1265432871 | 7 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.31) Somatic: No Accession: NT_167249.2:g.3494739G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494739G>C Locations: - p.Glu7Asp (Ensembl:ENST00000472060) - c.21G>C (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs1785790916 | 7 | E>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NT_167249.2:g.3494738A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494738A>T Locations: - p.Glu7Val (Ensembl:ENST00000472060) - c.20A>T (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs1467625530 | 8 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NT_167249.2:g.3494742C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494742C>A Locations: - p.Asp8Glu (Ensembl:ENST00000472060) - c.24C>A (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs926302578 | 9 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NT_167249.2:g.3494744G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494744G>A Locations: - p.Gly9Glu (Ensembl:ENST00000472060) - c.26G>A (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs926302578 | 9 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3494744G>T Codon: GGG/GTG Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494744G>T Locations: - p.Gly9Val (Ensembl:ENST00000472060) - c.26G>T (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs1785792543 | 10 | G>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3494746G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494746G>T Locations: - p.Gly10Cys (Ensembl:ENST00000472060) - c.28G>T (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs775322952 | 12 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NT_167249.2:g.3494753A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494753A>G Locations: - p.Glu12Gly (Ensembl:ENST00000472060) - c.35A>G (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs1408357313 | 15 | N>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NT_167249.2:g.3494761A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494761A>G Locations: - p.Asn15Asp (Ensembl:ENST00000472060) - c.43A>G (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs377192058 | 15 | N>K | Likely benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NT_167249.2:g.3494763T>A Codon: AAT/AAA Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494763T>A Locations: - p.Asn15Lys (Ensembl:ENST00000472060) - c.45T>A (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs1785796287 | 17 | E>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NT_167249.2:g.3494767G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494767G>C Locations: - p.Glu17Gln (Ensembl:ENST00000472060) - c.49G>C (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs1327960921 | 19 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: NT_167249.2:g.3494774G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494774G>A Locations: - p.Gly19Asp (Ensembl:ENST00000472060) - c.56G>A (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs370126800 | 19 | G>S | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NT_167249.2:g.3494773G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494773G>A Locations: - p.Gly19Ser (Ensembl:ENST00000472060) - c.55G>A (Ensembl:ENST00000472060) Source type: large scale study | |||||||
rs766600883 | 20 | G>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NT_167249.2:g.3494777G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494777G>A Locations: - p.Gly20Glu (Ensembl:ENST00000472060) - c.59G>A (Ensembl:ENST00000472060) Source type: large scale study | |||||||
rs1785798838 | 22 | G>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NT_167249.2:g.3494783G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494783G>T Locations: - p.Gly22Val (Ensembl:ENST00000472060) - c.65G>T (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs765421261 | 23 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NT_167249.2:g.3494785G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494785G>T Locations: - p.Ala23Ser (Ensembl:ENST00000472060) - c.67G>T (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs1289753333 | 24 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.35) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NT_167249.2:g.3494789C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494789C>T Locations: - p.Thr24Ile (Ensembl:ENST00000472060) - c.71C>T (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs758750126 | 26 | E>* | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: stop gained Somatic: No Accession: NT_167249.2:g.3494794G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: Genomic location: NT_167249.2:g.3494794G>T Locations: - p.Glu26Ter (Ensembl:ENST00000472060) - c.76G>T (Ensembl:ENST00000472060) Source type: large scale study | |||||||
rs778285711 | 28 | N>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3494800A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494800A>G Locations: - p.Asn28Asp (Ensembl:ENST00000472060) - c.82A>G (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs1455449467 | 28 | N>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3494801A>C Codon: AAT/ACT Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494801A>C Locations: - p.Asn28Thr (Ensembl:ENST00000472060) - c.83A>C (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs1785803008 | 29 | I>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3494805A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494805A>G Locations: - p.Ile29Met (Ensembl:ENST00000472060) - c.87A>G (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs1785802545 | 29 | I>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3494804T>G Codon: ATA/AGA Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494804T>G Locations: - p.Ile29Arg (Ensembl:ENST00000472060) - c.86T>G (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs747520493 | 29 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3494803A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494803A>G Locations: - p.Ile29Val (Ensembl:ENST00000472060) - c.85A>G (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs756707639 | 32 | E>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.951) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3494813A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494813A>T Locations: - p.Glu32Val (Ensembl:ENST00000472060) - c.95A>T (Ensembl:ENST00000472060) Source type: large scale study | |||||||
rs773642829 | 34 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NT_167249.2:g.3494818G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494818G>T Locations: - p.Ala34Ser (Ensembl:ENST00000472060) - c.100G>T (Ensembl:ENST00000472060) Source type: large scale study | |||||||
rs773642829 | 34 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3494818G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494818G>A Locations: - p.Ala34Thr (Ensembl:ENST00000472060) - c.100G>A (Ensembl:ENST00000472060) Source type: large scale study | |||||||
rs1785804644 | 38 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3494831T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494831T>C Locations: - p.Val38Ala (Ensembl:ENST00000472060) - c.113T>C (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs749050679 | 39 | V>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3494834T>G Codon: GTC/GGC Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494834T>G Locations: - p.Val39Gly (Ensembl:ENST00000472060) - c.116T>G (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs1785806307 | 42 | C>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NT_167249.2:g.3494843G>C Codon: TGT/TCT Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494843G>C Locations: - p.Cys42Ser (Ensembl:ENST00000472060) - c.125G>C (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs1265405856 | 42 | C>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NT_167249.2:g.3494842T>A Codon: TGT/AGT Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494842T>A Locations: - p.Cys42Ser (Ensembl:ENST00000472060) - c.124T>A (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs1190806716 | 43 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3494846G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494846G>A Locations: - p.Gly43Asp (Ensembl:ENST00000472060) - c.128G>A (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs768336632 | 43 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3494845G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494845G>A Locations: - p.Gly43Ser (Ensembl:ENST00000472060) - c.127G>A (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs1190806716 | 43 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3494846G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494846G>T Locations: - p.Gly43Val (Ensembl:ENST00000472060) - c.128G>T (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs138854481 | 46 | Y>F | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NT_167249.2:g.3494855A>T Codon: TAC/TTC Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494855A>T Locations: - p.Tyr46Phe (Ensembl:ENST00000472060) - c.137A>T (Ensembl:ENST00000472060) Source type: large scale study | |||||||
rs1785808468 | 47 | C>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3494858G>C Codon: TGT/TCT Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494858G>C Locations: - p.Cys47Ser (Ensembl:ENST00000472060) - c.140G>C (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs1207141397 | 47 | C>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3494857T>A Codon: TGT/AGT Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3494857T>A Locations: - p.Cys47Ser (Ensembl:ENST00000472060) - c.139T>A (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs2127429346 | 48 | W>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NT_167249.2:g.3495751G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: Genomic location: NT_167249.2:g.3495751G>A Locations: - p.Trp48Ter (Ensembl:ENST00000472060) - c.144G>A (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs763061242 | 49 | P>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3495753C>G Codon: CCA/CGA Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495753C>G Locations: - p.Pro49Arg (Ensembl:ENST00000472060) - c.146C>G (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs1351388941 | 50 | C>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.915) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3495756G>C Codon: TGT/TCT Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495756G>C Locations: - p.Cys50Ser (Ensembl:ENST00000472060) - c.149G>C (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs764337609 | 52 | H>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.641) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NT_167249.2:g.3495761C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495761C>T Locations: - p.His52Tyr (Ensembl:ENST00000472060) - c.154C>T (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs2127429368 | 53 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3495766G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495766G>T Locations: - p.Gln53His (Ensembl:ENST00000472060) - c.159G>T (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs1561862772 | 56 | E>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.913) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3495865A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495865A>C Locations: - p.Glu56Ala (Ensembl:ENST00000472060) - c.167A>C (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs1003326616 | 59 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.843) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NT_167249.2:g.3495873C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495873C>T Locations: - p.Pro59Ser (Ensembl:ENST00000472060) - c.175C>T (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs768101414 | 60 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NT_167249.2:g.3495878A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495878A>T Locations: - p.Glu60Asp (Ensembl:ENST00000472060) - c.180A>T (Ensembl:ENST00000472060) Source type: large scale study | |||||||
rs763159722 | 60 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NT_167249.2:g.3495877A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495877A>G Locations: - p.Glu60Gly (Ensembl:ENST00000472060) - c.179A>G (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs114959175 | 62 | Q>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.872) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3495883A>T Codon: CAA/CTA Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495883A>T Locations: - p.Gln62Leu (Ensembl:ENST00000472060) - c.185A>T (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs114959175 | 62 | Q>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.358) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3495883A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495883A>G Locations: - p.Gln62Arg (Ensembl:ENST00000472060) - c.185A>G (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs1369196683 | 63 | E>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.187) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NT_167249.2:g.3495887G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495887G>C Locations: - p.Glu63Asp (Ensembl:ENST00000472060) - c.189G>C (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs767897690 | 64 | C>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3495889G>C Codon: TGT/TCT Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495889G>C Locations: - p.Cys64Ser (Ensembl:ENST00000472060) - c.191G>C (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs1300837792 | 65 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NT_167249.2:g.3495892C>G Codon: CCA/CGA Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495892C>G Locations: - p.Pro65Arg (Ensembl:ENST00000472060) - c.194C>G (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs1241941321 | 65 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3495891C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495891C>T Locations: - p.Pro65Ser (Ensembl:ENST00000472060) - c.193C>T (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs375375966 | 67 | C>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3495899T>G Codon: TGT/TGG Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495899T>G Locations: - p.Cys67Trp (Ensembl:ENST00000472060) - c.201T>G (Ensembl:ENST00000472060) Source type: large scale study | |||||||
rs1363515505 | 68 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NT_167249.2:g.3495902A>C Codon: AAA/AAC Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495902A>C Locations: - p.Lys68Asn (Ensembl:ENST00000472060) - c.204A>C (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs57409105 | 70 | G>E | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.893) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NT_167249.2:g.3495907G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495907G>A Locations: - p.Gly70Glu (Ensembl:ENST00000472060) - c.209G>A (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs57409105 | 70 | G>V | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.243) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NT_167249.2:g.3495907G>T Codon: GGG/GTG Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495907G>T Locations: - p.Gly70Val (Ensembl:ENST00000472060) - c.209G>T (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs1322443846 | 71 | I>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3495911C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495911C>G Locations: - p.Ile71Met (Ensembl:ENST00000472060) - c.213C>G (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs1451617593 | 72 | S>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3495912A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495912A>T Locations: - p.Ser72Cys (Ensembl:ENST00000472060) - c.214A>T (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs766951877 | 72 | S>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3495913G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495913G>T Locations: - p.Ser72Ile (Ensembl:ENST00000472060) - c.215G>T (Ensembl:ENST00000472060) Source type: large scale study | |||||||
rs1785921338 | 75 | K>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NT_167249.2:g.3495923G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495923G>T Locations: - p.Lys75Asn (Ensembl:ENST00000472060) - c.225G>T (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs754596503 | 78 | P>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3495931C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495931C>A Locations: - p.Pro78Gln (Ensembl:ENST00000472060) - c.233C>A (Ensembl:ENST00000472060) Source type: large scale study | |||||||
rs753286828 | 78 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3495930C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495930C>T Locations: - p.Pro78Ser (Ensembl:ENST00000472060) - c.232C>T (Ensembl:ENST00000472060) Source type: large scale study | |||||||
rs1334937359 | 83 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3495946G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495946G>A Locations: - p.Gly83Glu (Ensembl:ENST00000472060) - c.248G>A (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs752402980 | 83 | G>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3495945G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495945G>A Locations: - p.Gly83Arg (Ensembl:ENST00000472060) - c.247G>A (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs777733601 | 84 | S>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.783) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NT_167249.2:g.3495949G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495949G>T Locations: - p.Ser84Ile (Ensembl:ENST00000472060) - c.251G>T (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs758228681 | 84 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.122) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3495948A>C Codon: AGC/CGC Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495948A>C Locations: - p.Ser84Arg (Ensembl:ENST00000472060) - c.250A>C (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs746859723 | 86 | K>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NT_167249.2:g.3495956G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495956G>T Locations: - p.Lys86Asn (Ensembl:ENST00000472060) - c.258G>T (Ensembl:ENST00000472060) Source type: large scale study | |||||||
rs770767056 | 87 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NT_167249.2:g.3495958C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495958C>T Locations: - p.Pro87Leu (Ensembl:ENST00000472060) - c.260C>T (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs1785925528 | 91 | R>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NT_167249.2:g.3495970G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: Genomic location: NT_167249.2:g.3495970G>A Locations: - p.Arg91Lys (Ensembl:ENST00000472060) - c.272G>A (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs977820104 | 92 | *>C | TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NT_167249.2:g.3495974A>C Codon: TGA/TGC Consequence type: stop lost Cytogenetic band: Genomic location: NT_167249.2:g.3495974A>C Locations: - p.Ter92CysextTer? (Ensembl:ENST00000472060) - c.276A>C (Ensembl:ENST00000472060) Source type: large scale study Cross-references: | |||||||
rs1273825859 | 92 | *>R | gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NT_167249.2:g.3495972T>A Codon: TGA/AGA Consequence type: stop lost Cytogenetic band: Genomic location: NT_167249.2:g.3495972T>A Locations: - p.Ter92ArgextTer? (Ensembl:ENST00000472060) - c.274T>A (Ensembl:ENST00000472060) Source type: large scale study Cross-references: |