E5RII9 · E5RII9_HUMAN
- ProteinProtein tyrosine kinase 2
- GenePTK2
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existencePredicted
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs777096481 | 3 | L>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.140662808A>T Codon: TTG/TAG Consequence type: stop gained Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662808A>T Locations: - p.Leu3Ter (Ensembl:ENST00000522950) - c.8T>A (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
COSV61789285 | 4 | R>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.140662805C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.140662805C>T Locations: - p.Arg4Lys (cosmic curated:ENST00000522950) - c.11G>A (cosmic curated:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs1341892858 | 4 | R>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140662805C>G Codon: AGA/ACA Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662805C>G Locations: - p.Arg4Thr (Ensembl:ENST00000522950) - c.11G>C (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs2082599356 | 5 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140662801A>T Codon: TTT/TTA Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662801A>T Locations: - p.Phe5Leu (Ensembl:ENST00000522950) - c.15T>A (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs1162185905 | 7 | I>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140662797T>G Codon: ATC/CTC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662797T>G Locations: - p.Ile7Leu (Ensembl:ENST00000522950) - c.19A>C (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs1224700414 | 9 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.28) Somatic: No Accession: NC_000008.11:g.140662790C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662790C>T Locations: - p.Ser9Asn (Ensembl:ENST00000522950) - c.26G>A (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs1457941929 | 10 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.140662788G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662788G>A Locations: - p.Gln10Ter (Ensembl:ENST00000522950) - c.28C>T (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs546268206 | 12 | Y>* | 1000Genomes TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.140662780G>T Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662780G>T Locations: - p.Tyr12Ter (Ensembl:ENST00000522950) - c.36C>A (Ensembl:ENST00000522950) Source type: large scale study | |||||||
COSV61790626 rs1356008424 | 12 | Y>H | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.140662782A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662782A>G Locations: - p.Tyr12His (Ensembl:ENST00000522950) - c.34T>C (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs1053176204 | 12 | Y>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140662781T>G Codon: TAC/TCC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662781T>G Locations: - p.Tyr12Ser (Ensembl:ENST00000522950) - c.35A>C (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs2082553284 | 13 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000008.11:g.140662778T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662778T>C Locations: - p.Asn13Ser (Ensembl:ENST00000522950) - c.38A>G (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
COSV61789522 | 14 | I>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.140662775A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.140662775A>T Locations: - p.Ile14Lys (cosmic curated:ENST00000522950) - c.41T>A (cosmic curated:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs1477095956 | 19 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.99) Somatic: No Accession: NC_000008.11:g.140662760G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662760G>A Locations: - p.Ser19Phe (Ensembl:ENST00000522950) - c.56C>T (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs1477095956 | 19 | S>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.96) Somatic: No Accession: NC_000008.11:g.140662760G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662760G>T Locations: - p.Ser19Tyr (Ensembl:ENST00000522950) - c.56C>A (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs1588771460 | 20 | F>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140662757A>G Codon: TTC/TCC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662757A>G Locations: - p.Phe20Ser (Ensembl:ENST00000522950) - c.59T>C (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs1194836733 | 22 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000008.11:g.140662751G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662751G>A Locations: - p.Ala22Val (Ensembl:ENST00000522950) - c.65C>T (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs1448591581 | 23 | S>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.140662748G>T Codon: TCA/TAA Consequence type: stop gained Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662748G>T Locations: - p.Ser23Ter (Ensembl:ENST00000522950) - c.68C>A (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs139401349 | 24 | Y>D | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140662746A>C Codon: TAC/GAC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662746A>C Locations: - p.Tyr24Asp (Ensembl:ENST00000522950) - c.70T>G (Ensembl:ENST00000522950) Source type: large scale study | |||||||
rs1265509543 | 25 | P>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140662742G>C Codon: CCA/CGA Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662742G>C Locations: - p.Pro25Arg (Ensembl:ENST00000522950) - c.74C>G (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
COSV61786182 | 25 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.140662743G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.140662743G>A Locations: - p.Pro25Ser (cosmic curated:ENST00000522950) - c.73C>T (cosmic curated:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs898186406 | 26 | E>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000008.11:g.140662738C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662738C>G Locations: - p.Glu26Asp (Ensembl:ENST00000522950) - c.78G>C (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs371274644 | 29 | D>N | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.61) Somatic: No Accession: NC_000008.11:g.140662731C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662731C>T Locations: - p.Asp29Asn (Ensembl:ENST00000522950) - c.85G>A (Ensembl:ENST00000522950) Source type: large scale study | |||||||
rs1357180415 | 31 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140662723C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662723C>G Locations: - p.Gln31His (Ensembl:ENST00000522950) - c.93G>C (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs2082424762 | 32 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140662722C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662722C>T Locations: - p.Gly32Arg (Ensembl:ENST00000522950) - c.94G>A (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs2082410618 | 33 | M>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140662717C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662717C>T Locations: - p.Met33Ile (Ensembl:ENST00000522950) - c.99G>A (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs908711485 | 33 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140662719T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662719T>C Locations: - p.Met33Val (Ensembl:ENST00000522950) - c.97A>G (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs1365115478 | 34 | F>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140662715A>T Codon: TTC/TAC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662715A>T Locations: - p.Phe34Tyr (Ensembl:ENST00000522950) - c.101T>A (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs77258301 | 35 | Q>* | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.140662713G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662713G>A Locations: - p.Gln35Ter (Ensembl:ENST00000522950) - c.103C>T (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs771578872 | 35 | Q>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000008.11:g.140662712T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662712T>G Locations: - p.Gln35Pro (Ensembl:ENST00000522950) - c.104A>C (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
COSV61791780 | 36 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.140662708C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.140662708C>G Locations: - p.Leu36Phe (cosmic curated:ENST00000522950) - c.108G>C (cosmic curated:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs553100053 | 37 | T>S | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000008.11:g.140662706G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662706G>C Locations: - p.Thr37Ser (Ensembl:ENST00000522950) - c.110C>G (Ensembl:ENST00000522950) Source type: large scale study | |||||||
rs1392281083 | 38 | N>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140662702G>T, NC_000008.11:g.140662702G>C Codon: AAC/AAA Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662702G>T, NC_000008.11:g.140662702G>C Locations: - p.Asn38Lys (Ensembl:ENST00000522950) - c.114C>A (Ensembl:ENST00000522950) - c.114C>G (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs146902115 | 38 | N>S | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140662703T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662703T>C Locations: - p.Asn38Ser (Ensembl:ENST00000522950) - c.113A>G (Ensembl:ENST00000522950) Source type: large scale study | |||||||
rs1167837907 | 39 | W>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140662701A>T Codon: TGG/AGG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662701A>T Locations: - p.Trp39Arg (Ensembl:ENST00000522950) - c.115T>A (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs761364462 | 40 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000008.11:g.140662697G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662697G>A Locations: - p.Thr40Ile (Ensembl:ENST00000522950) - c.119C>T (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs2082325885 | 45 | G>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.140662683C>A Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662683C>A Locations: - p.Gly45Ter (Ensembl:ENST00000522950) - c.133G>T (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs774450559 | 46 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.22) Somatic: No Accession: NC_000008.11:g.140662679C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662679C>A Locations: - p.Arg46Leu (Ensembl:ENST00000522950) - c.137G>T (Ensembl:ENST00000522950) Source type: large scale study | |||||||
rs774450559 | 46 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.41) Somatic: No Accession: NC_000008.11:g.140662679C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662679C>T Locations: - p.Arg46Gln (Ensembl:ENST00000522950) - c.137G>A (Ensembl:ENST00000522950) Source type: large scale study | |||||||
rs1411350007 | 46 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000008.11:g.140662680G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662680G>A Locations: - p.Arg46Trp (Ensembl:ENST00000522950) - c.136C>T (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs1563796396 | 48 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140662673T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662673T>C Locations: - p.Asp48Gly (Ensembl:ENST00000522950) - c.143A>G (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs768652102 | 48 | D>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140662674C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662674C>G Locations: - p.Asp48His (Ensembl:ENST00000522950) - c.142G>C (Ensembl:ENST00000522950) Source type: large scale study | |||||||
rs2082297250 | 49 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140662671T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662671T>C Locations: - p.Thr49Ala (Ensembl:ENST00000522950) - c.145A>G (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs570459690 | 50 | T>A | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140662668T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662668T>C Locations: - p.Thr50Ala (Ensembl:ENST00000522950) - c.148A>G (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs570459690 | 50 | T>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140662668T>A Codon: ACT/TCT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662668T>A Locations: - p.Thr50Ser (Ensembl:ENST00000522950) - c.148A>T (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs1452342263 | 51 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140662664G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662664G>A Locations: - p.Pro51Leu (Ensembl:ENST00000522950) - c.152C>T (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs2082268347 | 52 | V>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140662661A>G Codon: GTT/GCT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662661A>G Locations: - p.Val52Ala (Ensembl:ENST00000522950) - c.155T>C (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs1255040459 | 52 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140662662C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662662C>T Locations: - p.Val52Ile (Ensembl:ENST00000522950) - c.154G>A (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs775746412 | 53 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140662659C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662659C>T Locations: - p.Gly53Ser (Ensembl:ENST00000522950) - c.157G>A (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs2082259461 | 53 | G>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140662658C>A Codon: GGT/GTT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662658C>A Locations: - p.Gly53Val (Ensembl:ENST00000522950) - c.158G>T (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs2152653970 | 54 | D>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140662655T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662655T>A Locations: - p.Asp54Val (Ensembl:ENST00000522950) - c.161A>T (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs1457301036 | 55 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140662652G>C Codon: TCC/TGC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662652G>C Locations: - p.Ser55Cys (Ensembl:ENST00000522950) - c.164C>G (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs1258599607 | 56 | F>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140662650A>C Codon: TTT/GTT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140662650A>C Locations: - p.Phe56Val (Ensembl:ENST00000522950) - c.166T>G (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs1306584414 | 57 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140660648C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140660648C>A Locations: - p.Ala57Ser (Ensembl:ENST00000522950) - c.169G>T (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
COSV61789051 | 58 | Q>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.140660644T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.140660644T>A Locations: - p.Gln58Leu (cosmic curated:ENST00000522950) - c.173A>T (cosmic curated:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs2078259920 | 59 | A>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000008.11:g.140660642C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140660642C>G Locations: - p.Ala59Pro (Ensembl:ENST00000522950) - c.175G>C (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs1377022538 | 60 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.49) Somatic: No Accession: NC_000008.11:g.140660639C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140660639C>T Locations: - p.Val60Ile (Ensembl:ENST00000522950) - c.178G>A (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
COSV104653044 | 62 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.140660633G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.140660633G>A Locations: - p.Pro62Ser (cosmic curated:ENST00000522950) - c.184C>T (cosmic curated:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs1444992151 | 63 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000008.11:g.140660630G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140660630G>A Locations: - p.Arg63Cys (Ensembl:ENST00000522950) - c.187C>T (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
COSV100570063 rs887581924 | 63 | R>H | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.14) Somatic: Yes Accession: NC_000008.11:g.140660629C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140660629C>T Locations: - p.Arg63His (Ensembl:ENST00000522950) - c.188G>A (Ensembl:ENST00000522950) Source type: large scale study | |||||||
rs1665198394 | 67 | E>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140660618C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140660618C>G Locations: - p.Glu67Gln (Ensembl:ENST00000522950) - c.199G>C (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs1377610557 | 68 | *>S | gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000008.11:g.140660615del Codon: TAG/AG Consequence type: stop lost Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140660615del Locations: - p.Ter68SerfsTer13 (Ensembl:ENST00000522950) - c.202del (Ensembl:ENST00000522950) Source type: large scale study Cross-references: | |||||||
rs1157109173 | 68 | *>Y | TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000008.11:g.140660613del Codon: TAG/TA Consequence type: stop lost Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140660613del Locations: - p.Ter68TyrfsTer13 (Ensembl:ENST00000522950) - c.204del (Ensembl:ENST00000522950) Source type: large scale study Cross-references: |