D6RBI9 · D6RBI9_HUMAN
- ProteinEpsin 3
- GeneEPN3
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV52142870 rs528825208 | 2 | T>K | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000017.11:g.50536561C>A Codon: ACG/AAG Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536561C>A Locations: - p.Thr2Lys (Ensembl:ENST00000514874) - c.5C>A (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs528825208 | 2 | T>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536561C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536561C>T Locations: - p.Thr2Met (Ensembl:ENST00000514874) - c.5C>T (Ensembl:ENST00000514874) Source type: large scale study | |||||||
rs756734982 | 3 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536564C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536564C>T Locations: - p.Thr3Ile (Ensembl:ENST00000514874) - c.8C>T (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs756734982 | 3 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536564C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536564C>G Locations: - p.Thr3Ser (Ensembl:ENST00000514874) - c.8C>G (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs1463586183 | 3 | T>S | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536563A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536563A>T Locations: - p.Thr3Ser (Ensembl:ENST00000514874) - c.7A>T (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs2034765253 | 4 | S>P | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536566T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536566T>C Locations: - p.Ser4Pro (Ensembl:ENST00000514874) - c.10T>C (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs202073545 | 5 | A>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000017.11:g.50536569G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536569G>T Locations: - p.Ala5Ser (Ensembl:ENST00000514874) - c.13G>T (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs202073545 | 5 | A>T | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536569G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536569G>A Locations: - p.Ala5Thr (Ensembl:ENST00000514874) - c.13G>A (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs1597860231 | 5 | A>V | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536570C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536570C>T Locations: - p.Ala5Val (Ensembl:ENST00000514874) - c.14C>T (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs2034765457 | 6 | L>P | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536573T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536573T>C Locations: - p.Leu6Pro (Ensembl:ENST00000514874) - c.17T>C (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs557068444 | 7 | R>Q | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536576G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536576G>A Locations: - p.Arg7Gln (Ensembl:ENST00000514874) - c.20G>A (Ensembl:ENST00000514874) Source type: large scale study | |||||||
COSV52141953 rs746697052 | 7 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000007961 (gnomAD) Accession: NC_000017.11:g.50536575C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536575C>T Locations: - p.R7W (NCI-TCGA:ENST00000514874) - p.Arg7Trp (Ensembl:ENST00000514874) - c.19C>T (Ensembl:ENST00000514874) Source type: large scale study | |||||||
COSV108048690 rs556561218 | 8 | R>C | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000017.11:g.50536578C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536578C>T Locations: - p.Arg8Cys (Ensembl:ENST00000514874) - c.22C>T (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
COSV52138116 rs747912399 | 8 | R>H | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000017.11:g.50536579G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536579G>A Locations: - p.Arg8His (Ensembl:ENST00000514874) - c.23G>A (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs1211334788 | 11 | K>E | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000017.11:g.50536587A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536587A>G Locations: - p.Lys11Glu (Ensembl:ENST00000514874) - c.31A>G (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs1259281727 | 11 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536589G>C, NC_000017.11:g.50536589G>T Codon: AAG/AAC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536589G>C, NC_000017.11:g.50536589G>T Locations: - p.Lys11Asn (Ensembl:ENST00000514874) - c.33G>C (Ensembl:ENST00000514874) - c.33G>T (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs1482144727 | 12 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536591A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536591A>G Locations: - p.Asn12Ser (Ensembl:ENST00000514874) - c.35A>G (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs1482144727 | 12 | N>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536591A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536591A>C Locations: - p.Asn12Thr (Ensembl:ENST00000514874) - c.35A>C (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs2034765771 | 13 | I>T | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536594T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536594T>C Locations: - p.Ile13Thr (Ensembl:ENST00000514874) - c.38T>C (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs1181562294 | 13 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000017.11:g.50536593A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536593A>G Locations: - p.Ile13Val (Ensembl:ENST00000514874) - c.37A>G (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs942895418 | 14 | V>A | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536597T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536597T>C Locations: - p.Val14Ala (Ensembl:ENST00000514874) - c.41T>C (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs370636443 | 14 | V>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536596G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536596G>C Locations: - p.Val14Leu (Ensembl:ENST00000514874) - c.40G>C (Ensembl:ENST00000514874) Source type: large scale study | |||||||
COSV99277115 rs370636443 | 14 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: Yes Population frequencies: - MAF: 0.00002785 (gnomAD) Accession: NC_000017.11:g.50536596G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536596G>A Locations: - p.V14M (NCI-TCGA:ENST00000514874) - p.Val14Met (Ensembl:ENST00000514874) - c.40G>A (Ensembl:ENST00000514874) Source type: large scale study | |||||||
rs1166753280 | 15 | H>R | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000017.11:g.50536600A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536600A>G Locations: - p.His15Arg (Ensembl:ENST00000514874) - c.44A>G (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs1390107883 | 16 | N>H | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536602A>C Codon: AAC/CAC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536602A>C Locations: - p.Asn16His (Ensembl:ENST00000514874) - c.46A>C (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs1274525518 | 17 | Y>C | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536606A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536606A>G Locations: - p.Tyr17Cys (Ensembl:ENST00000514874) - c.50A>G (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs1435824445 | 17 | Y>D | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536605T>G Codon: TAC/GAC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536605T>G Locations: - p.Tyr17Asp (Ensembl:ENST00000514874) - c.49T>G (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs1274525518 | 17 | Y>S | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536606A>C Codon: TAC/TCC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536606A>C Locations: - p.Tyr17Ser (Ensembl:ENST00000514874) - c.50A>C (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs1465831951 | 18 | S>F | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536609C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536609C>T Locations: - p.Ser18Phe (Ensembl:ENST00000514874) - c.53C>T (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs774486633 | 18 | S>P | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536608T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536608T>C Locations: - p.Ser18Pro (Ensembl:ENST00000514874) - c.52T>C (Ensembl:ENST00000514874) Source type: large scale study | |||||||
rs774486633 | 18 | S>T | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000017.11:g.50536608T>A Codon: TCC/ACC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536608T>A Locations: - p.Ser18Thr (Ensembl:ENST00000514874) - c.52T>A (Ensembl:ENST00000514874) Source type: large scale study | |||||||
rs767834541 | 19 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536611G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536611G>A Locations: - p.Glu19Lys (Ensembl:ENST00000514874) - c.55G>A (Ensembl:ENST00000514874) Source type: large scale study | |||||||
rs753134986 | 20 | A>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536614G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536614G>C Locations: - p.Ala20Pro (Ensembl:ENST00000514874) - c.58G>C (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs753134986 | 20 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536614G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536614G>A Locations: - p.Ala20Thr (Ensembl:ENST00000514874) - c.58G>A (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs756507809 | 23 | K>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536623A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536623A>G Locations: - p.Lys23Glu (Ensembl:ENST00000514874) - c.67A>G (Ensembl:ENST00000514874) Source type: large scale study | |||||||
rs1364386591 | 23 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536625G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536625G>C Locations: - p.Lys23Asn (Ensembl:ENST00000514874) - c.69G>C (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs2034766330 | 24 | V>A | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536627T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536627T>C Locations: - p.Val24Ala (Ensembl:ENST00000514874) - c.71T>C (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs764704060 | 24 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536626G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536626G>A Locations: - p.Val24Met (Ensembl:ENST00000514874) - c.70G>A (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
COSV52139195 rs753177479 | 25 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00003581 (gnomAD) Accession: NC_000017.11:g.50536629C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536629C>T Locations: - p.R25C (NCI-TCGA:ENST00000514874) - p.Arg25Cys (Ensembl:ENST00000514874) - c.73C>T (Ensembl:ENST00000514874) Source type: large scale study | |||||||
COSV52143211 rs139367693 | 25 | R>H | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000017.11:g.50536630G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536630G>A Locations: - p.Arg25His (Ensembl:ENST00000514874) - c.74G>A (Ensembl:ENST00000514874) Source type: large scale study | |||||||
rs149630018 | 26 | E>G | Variant of uncertain significance (Ensembl) | ESP TOPMed | |||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536633A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536633A>G Locations: - p.Glu26Gly (Ensembl:ENST00000514874) - c.77A>G (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs1261562138 | 26 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536632G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536632G>A Locations: - p.Glu26Lys (Ensembl:ENST00000514874) - c.76G>A (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs1186771896 | 27 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536635G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536635G>A Locations: - p.Ala27Thr (Ensembl:ENST00000514874) - c.79G>A (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs754670852 | 27 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536636C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536636C>T Locations: - p.Ala27Val (Ensembl:ENST00000514874) - c.80C>T (Ensembl:ENST00000514874) Source type: large scale study | |||||||
rs1400503825 | 28 | T>S | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536639C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536639C>G Locations: - p.Thr28Ser (Ensembl:ENST00000514874) - c.83C>G (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs1454763251 | 30 | N>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536646T>A Codon: AAT/AAA Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536646T>A Locations: - p.Asn30Lys (Ensembl:ENST00000514874) - c.90T>A (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs757315511 | 31 | D>G | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536648A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536648A>G Locations: - p.Asp31Gly (Ensembl:ENST00000514874) - c.92A>G (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs2034766889 | 32 | P>R | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536651C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536651C>G Locations: - p.Pro32Arg (Ensembl:ENST00000514874) - c.95C>G (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
COSV52142679 rs1419987510 | 32 | P>S | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: Yes Accession: NC_000017.11:g.50536650C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536650C>T Locations: - p.Pro32Ser (Ensembl:ENST00000514874) - c.94C>T (Ensembl:ENST00000514874) Source type: large scale study | |||||||
rs747966035 | 33 | W>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000017.11:g.50536655G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536655G>A Locations: - p.Trp33Ter (Ensembl:ENST00000514874) - c.99G>A (Ensembl:ENST00000514874) Source type: large scale study | |||||||
rs747966035 | 33 | W>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536655G>C Codon: TGG/TGC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536655G>C Locations: - p.Trp33Cys (Ensembl:ENST00000514874) - c.99G>C (Ensembl:ENST00000514874) Source type: large scale study | |||||||
rs780769446 | 33 | W>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536653T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536653T>C Locations: - p.Trp33Arg (Ensembl:ENST00000514874) - c.97T>C (Ensembl:ENST00000514874) Source type: large scale study | |||||||
rs769508802 | 34 | G>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536657G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536657G>C Locations: - p.Gly34Ala (Ensembl:ENST00000514874) - c.101G>C (Ensembl:ENST00000514874) Source type: large scale study | |||||||
rs887163366 | 34 | G>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536656G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536656G>T Locations: - p.Gly34Cys (Ensembl:ENST00000514874) - c.100G>T (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs1387356776 | 36 | P>A | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000017.11:g.50536662C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536662C>G Locations: - p.Pro36Ala (Ensembl:ENST00000514874) - c.106C>G (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs770873913 | 37 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536667T>A Codon: AGT/AGA Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536667T>A Locations: - p.Ser37Arg (Ensembl:ENST00000514874) - c.111T>A (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
COSV52139596 rs1365357138 | 38 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000017.11:g.50536669C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536669C>T Locations: - p.S38L (NCI-TCGA:ENST00000514874) - p.Ser38Leu (Ensembl:ENST00000514874) - c.113C>T (Ensembl:ENST00000514874) Source type: large scale study | |||||||
rs2034767490 | 39 | L>F | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536671C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536671C>T Locations: - p.Leu39Phe (Ensembl:ENST00000514874) - c.115C>T (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs772455107 | 40 | M>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536675T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536675T>C Locations: - p.Met40Thr (Ensembl:ENST00000514874) - c.119T>C (Ensembl:ENST00000514874) Source type: large scale study | |||||||
rs775790023 | 41 | S>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536677T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536677T>C Locations: - p.Ser41Pro (Ensembl:ENST00000514874) - c.121T>C (Ensembl:ENST00000514874) Source type: large scale study | |||||||
rs143210632 | 42 | E>K | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536680G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536680G>A Locations: - p.Glu42Lys (Ensembl:ENST00000514874) - c.124G>A (Ensembl:ENST00000514874) Source type: large scale study | |||||||
rs762267249 | 44 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001591 (gnomAD) Accession: NC_000017.11:g.50536686G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536686G>A Locations: - p.A44T (NCI-TCGA:ENST00000514874) - p.Ala44Thr (Ensembl:ENST00000514874) - c.130G>A (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs2034767836 | 46 | L>P | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536693T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536693T>C Locations: - p.Leu46Pro (Ensembl:ENST00000514874) - c.137T>C (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs1178150464 | 48 | F>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536699T>G Codon: TTC/TGC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536699T>G Locations: - p.Phe48Cys (Ensembl:ENST00000514874) - c.143T>G (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs1178150464 | 48 | F>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536699T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536699T>C Locations: - p.Phe48Ser (Ensembl:ENST00000514874) - c.143T>C (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs2034767991 | 49 | N>T | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536702A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536702A>C Locations: - p.Asn49Thr (Ensembl:ENST00000514874) - c.146A>C (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs1241610379 | 50 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000017.11:g.50536704A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536704A>G Locations: - p.Thr50Ala (Ensembl:ENST00000514874) - c.148A>G (Ensembl:ENST00000514874) Source type: large scale study Cross-references: | |||||||
rs2034768093 | 51 | V>L | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000017.11:g.50536707G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 17q21.33 Genomic location: NC_000017.11:g.50536707G>C Locations: - p.Val51Leu (Ensembl:ENST00000514874) - c.151G>C (Ensembl:ENST00000514874) Source type: large scale study Cross-references: |