P70227 · ITPR3_MOUSE
- ProteinInositol 1,4,5-trisphosphate-gated calcium channel ITPR3
- GeneItpr3
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids2670 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389447156 | 12 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27276593G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27276593G>A Locations: - p.Asp12Asn (Ensembl:ENSMUST00000049308) - c.34G>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3407192452 | 14 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27276599G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27276599G>A Locations: - p.Val14Met (Ensembl:ENSMUST00000049308) - c.40G>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389414812 | 55 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27302507G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27302507G>A Locations: - p.Cys55Tyr (Ensembl:ENSMUST00000049308) - c.164G>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389404987 | 62 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27302529G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27302529G>T Locations: - p.Met62Ile (Ensembl:ENSMUST00000049308) - c.186G>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389438367 | 104 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27304091A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27304091A>G Locations: - p.Asn104Ser (Ensembl:ENSMUST00000049308) - c.311A>G (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389440518 | 123 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27304148A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27304148A>T Locations: - p.Gln123Leu (Ensembl:ENSMUST00000049308) - c.368A>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389456742 | 278 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27308047G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27308047G>A Locations: - p.Ser278Asn (Ensembl:ENSMUST00000049308) - c.833G>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389451689 | 282 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27308058C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27308058C>T Locations: - p.Leu282Phe (Ensembl:ENSMUST00000049308) - c.844C>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389395756 | 311 | T>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27308309C>A Codon: ACG/AAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27308309C>A Locations: - p.Thr311Lys (Ensembl:ENSMUST00000049308) - c.932C>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389451647 | 324 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27308607G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27308607G>T Locations: - p.Lys324Asn (Ensembl:ENSMUST00000049308) - c.972G>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389448703 | 332 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000083.7:g.27308629G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27308629G>A Locations: - p.Ala332Thr (Ensembl:ENSMUST00000049308) - c.994G>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs48599133 | 335 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000083.7:g.27308639T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27308639T>C Locations: - p.Leu335Pro (Ensembl:ENSMUST00000049308) - c.1004T>C (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389437725 | 345 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27308832A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27308832A>T Locations: - p.Asn345Ile (Ensembl:ENSMUST00000049308) - c.1034A>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389451738 | 359 | H>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27308874A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27308874A>G Locations: - p.His359Arg (Ensembl:ENSMUST00000049308) - c.1076A>G (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389451741 | 364 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27308889C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27308889C>T Locations: - p.Ala364Val (Ensembl:ENSMUST00000049308) - c.1091C>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389405037 | 374 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27308918C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27308918C>A Locations: - p.Leu374Met (Ensembl:ENSMUST00000049308) - c.1120C>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389404970 | 398 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000083.7:g.27310328A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27310328A>G Locations: - p.Ile398Val (Ensembl:ENSMUST00000049308) - c.1192A>G (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389447087 | 403 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000083.7:g.27310344C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27310344C>T Locations: - p.Ala403Val (Ensembl:ENSMUST00000049308) - c.1208C>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389405023 | 426 | K>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27310495A>T Codon: AAA/ATA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27310495A>T Locations: - p.Lys426Ile (Ensembl:ENSMUST00000049308) - c.1277A>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389395691 | 437 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27310527T>C Codon: TCG/CCG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27310527T>C Locations: - p.Ser437Pro (Ensembl:ENSMUST00000049308) - c.1309T>C (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389451650 | 455 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000083.7:g.27310581G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27310581G>A Locations: - p.Ala455Thr (Ensembl:ENSMUST00000049308) - c.1363G>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3407611797 | 455 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000083.7:g.27310582C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27310582C>T Locations: - p.Ala455Val (Ensembl:ENSMUST00000049308) - c.1364C>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389440427 | 464 | I>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27310610C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27310610C>G Locations: - p.Ile464Met (Ensembl:ENSMUST00000049308) - c.1392C>G (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389451679 | 534 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27312197C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27312197C>A Locations: - p.Pro534Thr (Ensembl:ENSMUST00000049308) - c.1600C>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389451707 | 556 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27312264G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27312264G>A Locations: - p.Cys556Tyr (Ensembl:ENSMUST00000049308) - c.1667G>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389456764 | 559 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27312272G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27312272G>A Locations: - p.Val559Met (Ensembl:ENSMUST00000049308) - c.1675G>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389443896 | 560 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27312275T>A Codon: TTG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27312275T>A Locations: - p.Leu560Met (Ensembl:ENSMUST00000049308) - c.1678T>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3412564237 | 584 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27313806A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27313806A>T Locations: - p.Gln584Leu (Ensembl:ENSMUST00000049308) - c.1751A>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389445085 | 597 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27313844G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27313844G>A Locations: - p.Ala597Thr (Ensembl:ENSMUST00000049308) - c.1789G>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389447096 | 614 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27313897G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27313897G>C Locations: - p.Glu614Asp (Ensembl:ENSMUST00000049308) - c.1842G>C (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389443971 | 616 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.27313901G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.27313901G>T Locations: - p.Glu616Ter (Ensembl:ENSMUST00000049308) - c.1846G>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389443933 | 619 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27313910G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27313910G>A Locations: - p.Val619Ile (Ensembl:ENSMUST00000049308) - c.1855G>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389359211 | 620 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27313914G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27313914G>A Locations: - p.Ser620Asn (Ensembl:ENSMUST00000049308) - c.1859G>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs246383479 | 678 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27314888G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27314888G>T Locations: - p.Gln678His (Ensembl:ENSMUST00000049308) - c.2034G>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389445098 | 698 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27314947A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27314947A>G Locations: - p.Asp698Gly (Ensembl:ENSMUST00000049308) - c.2093A>G (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389395702 | 718 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27315006G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27315006G>A Locations: - p.Gly718Ser (Ensembl:ENSMUST00000049308) - c.2152G>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389414773 | 743 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27316973C>A Codon: CGC/AGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27316973C>A Locations: - p.Arg743Ser (Ensembl:ENSMUST00000049308) - c.2227C>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3412112358 | 753 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27317005G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27317005G>T Locations: - p.Lys753Asn (Ensembl:ENSMUST00000049308) - c.2259G>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3552705638 | 795 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000083.7:g.27317129A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27317129A>C Locations: - p.Thr795Pro (Ensembl:ENSMUST00000049308) - c.2383A>C (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389462713 | 816 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27317292G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27317292G>T Locations: - p.Asp816Tyr (Ensembl:ENSMUST00000049308) - c.2446G>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs50422773 | 821 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000083.7:g.27317307G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27317307G>T Locations: - p.Ala821Ser (Ensembl:ENSMUST00000049308) - c.2461G>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389404973 | 828 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27317330C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27317330C>A Locations: - p.Asn828Lys (Ensembl:ENSMUST00000049308) - c.2484C>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389426160 | 1010 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27320180C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27320180C>G Locations: - p.Asp1010Glu (Ensembl:ENSMUST00000049308) - c.3030C>G (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389414772 | 1073 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27321841G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27321841G>A Locations: - p.Gly1073Ser (Ensembl:ENSMUST00000049308) - c.3217G>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389445071 | 1087 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.27321883G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.27321883G>T Locations: - p.Glu1087Ter (Ensembl:ENSMUST00000049308) - c.3259G>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3406619247 | 1102 | Q>T | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.27322827_27322828insACCTGATTGGTCCACT Codon: -/ACCTGATTGGTCCACT Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.27322827_27322828insACCTGATTGGTCCACT Locations: - p.Gln1102ThrfsTer2 (Ensembl:ENSMUST00000049308) - c.3303_3304insACCTGATTGGTCCACT (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389451687 | 1111 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27322857G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27322857G>T Locations: - p.Lys1111Asn (Ensembl:ENSMUST00000049308) - c.3333G>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389451655 | 1166 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000083.7:g.27323096A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27323096A>T Locations: - p.Ser1166Cys (Ensembl:ENSMUST00000049308) - c.3496A>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3407476448 | 1171 | I>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27323113T>G Codon: ATT/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27323113T>G Locations: - p.Ile1171Met (Ensembl:ENSMUST00000049308) - c.3513T>G (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3407587794 | 1172 | V>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27323115T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27323115T>G Locations: - p.Val1172Gly (Ensembl:ENSMUST00000049308) - c.3515T>G (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389359146 | 1182 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27323522G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27323522G>A Locations: - p.Met1182Ile (Ensembl:ENSMUST00000049308) - c.3546G>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3407193433 | 1204 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.27323586A>T Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.27323586A>T Locations: - p.Lys1204Ter (Ensembl:ENSMUST00000049308) - c.3610A>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389443886 | 1240 | P>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000083.7:g.27324538C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27324538C>G Locations: - p.Pro1240Arg (Ensembl:ENSMUST00000049308) - c.3719C>G (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs1132265555 | 1240 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000083.7:g.27324537C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27324537C>T Locations: - p.Pro1240Ser (Ensembl:ENSMUST00000049308) - c.3718C>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs1132265555 | 1240 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000083.7:g.27324537C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27324537C>A Locations: - p.Pro1240Thr (Ensembl:ENSMUST00000049308) - c.3718C>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389443888 | 1246 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27324556T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27324556T>C Locations: - p.Leu1246Pro (Ensembl:ENSMUST00000049308) - c.3737T>C (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389426158 | 1332 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27326225G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27326225G>A Locations: - p.Val1332Met (Ensembl:ENSMUST00000049308) - c.3994G>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389437771 | 1339 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27326248G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27326248G>T Locations: - p.Lys1339Asn (Ensembl:ENSMUST00000049308) - c.4017G>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389451691 | 1339 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27326247A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27326247A>G Locations: - p.Lys1339Arg (Ensembl:ENSMUST00000049308) - c.4016A>G (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389451653 | 1352 | A>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27326286C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27326286C>A Locations: - p.Ala1352Asp (Ensembl:ENSMUST00000049308) - c.4055C>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389395751 | 1375 | C>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27326354T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27326354T>C Locations: - p.Cys1375Arg (Ensembl:ENSMUST00000049308) - c.4123T>C (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389451641 | 1382 | Y>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27326376A>T Codon: TAC/TTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27326376A>T Locations: - p.Tyr1382Phe (Ensembl:ENSMUST00000049308) - c.4145A>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389426105 | 1405 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27326445G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27326445G>A Locations: - p.Cys1405Tyr (Ensembl:ENSMUST00000049308) - c.4214G>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389445124 | 1416 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27326605T>A Codon: TTC/ATC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27326605T>A Locations: - p.Phe1416Ile (Ensembl:ENSMUST00000049308) - c.4246T>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389395750 | 1435 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27326664C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27326664C>A Locations: - p.Asn1435Lys (Ensembl:ENSMUST00000049308) - c.4305C>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389440544 | 1438 | W>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27326673G>C Codon: TGG/TGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27326673G>C Locations: - p.Trp1438Cys (Ensembl:ENSMUST00000049308) - c.4314G>C (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389438346 | 1438 | W>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27326672G>C Codon: TGG/TCG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27326672G>C Locations: - p.Trp1438Ser (Ensembl:ENSMUST00000049308) - c.4313G>C (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs48171281 | 1453 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.65) Somatic: No Accession: NC_000083.7:g.27326798A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27326798A>G Locations: - p.Asn1453Ser (Ensembl:ENSMUST00000049308) - c.4358A>G (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389440565 | 1459 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000083.7:g.27326815C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27326815C>A Locations: - p.Leu1459Met (Ensembl:ENSMUST00000049308) - c.4375C>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389437761 | 1468 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27326842G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27326842G>A Locations: - p.Val1468Met (Ensembl:ENSMUST00000049308) - c.4402G>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs233831153 | 1487 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27326901C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27326901C>G Locations: - p.Asn1487Lys (Ensembl:ENSMUST00000049308) - c.4461C>G (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389405011 | 1491 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27326911C>A Codon: CTA/ATA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27326911C>A Locations: - p.Leu1491Ile (Ensembl:ENSMUST00000049308) - c.4471C>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3407460385 | 1491 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27326912T>C Codon: CTA/CCA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27326912T>C Locations: - p.Leu1491Pro (Ensembl:ENSMUST00000049308) - c.4472T>C (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389414776 | 1493 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000083.7:g.27329455C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27329455C>T Locations: - p.Thr1493Met (Ensembl:ENSMUST00000049308) - c.4478C>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389451662 | 1500 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27329477G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27329477G>T Locations: - p.Gln1500His (Ensembl:ENSMUST00000049308) - c.4500G>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3406619286 | 1505 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27329491C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27329491C>A Locations: - p.Thr1505Asn (Ensembl:ENSMUST00000049308) - c.4514C>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3407877662 | 1508 | L>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27329500T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27329500T>A Locations: - p.Leu1508Gln (Ensembl:ENSMUST00000049308) - c.4523T>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3407611800 | 1510 | E>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27329506A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27329506A>C Locations: - p.Glu1510Ala (Ensembl:ENSMUST00000049308) - c.4529A>C (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389359141 | 1553 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27329865G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27329865G>C Locations: - p.Ser1553Thr (Ensembl:ENSMUST00000049308) - c.4658G>C (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3413134945 | 1560 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000083.7:g.27329885G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27329885G>A Locations: - p.Ala1560Thr (Ensembl:ENSMUST00000049308) - c.4678G>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389359189 | 1585 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27329962G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27329962G>T Locations: - p.Gln1585His (Ensembl:ENSMUST00000049308) - c.4755G>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389456773 | 1586 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.27329965G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.27329965G>A Locations: - p.Trp1586Ter (Ensembl:ENSMUST00000049308) - c.4758G>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3406932412 | 1586 | W>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27329964G>T Codon: TGG/TTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27329964G>T Locations: - p.Trp1586Leu (Ensembl:ENSMUST00000049308) - c.4757G>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389456731 | 1604 | E>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27330194A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27330194A>T Locations: - p.Glu1604Val (Ensembl:ENSMUST00000049308) - c.4811A>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389395706 | 1608 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27330205C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27330205C>A Locations: - p.Pro1608Thr (Ensembl:ENSMUST00000049308) - c.4822C>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389448666 | 1618 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27330235G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27330235G>C Locations: - p.Val1618Leu (Ensembl:ENSMUST00000049308) - c.4852G>C (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389462584 | 1666 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27330497T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27330497T>C Locations: - p.Leu1666Pro (Ensembl:ENSMUST00000049308) - c.4997T>C (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389448716 | 1684 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000083.7:g.27330643A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27330643A>G Locations: - p.Asn1684Ser (Ensembl:ENSMUST00000049308) - c.5051A>G (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389462662 | 1691 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.28) Somatic: No Accession: NC_000083.7:g.27330663C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27330663C>A Locations: - p.Leu1691Met (Ensembl:ENSMUST00000049308) - c.5071C>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389440560 | 1718 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000083.7:g.27330847G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 17q Genomic location: NC_000083.7:g.27330847G>A Locations: - p.Trp1718Ter (Ensembl:ENSMUST00000049308) - c.5154G>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389443911 | 1720 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27330852C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27330852C>G Locations: - p.Ala1720Gly (Ensembl:ENSMUST00000049308) - c.5159C>G (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3407446827 | 1764 | G>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27330983G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27330983G>T Locations: - p.Gly1764Cys (Ensembl:ENSMUST00000049308) - c.5290G>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs244072236 | 1828 | G>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000083.7:g.27332718G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27332718G>C Locations: - p.Gly1828Ala (Ensembl:ENSMUST00000049308) - c.5483G>C (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389359152 | 1837 | S>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000083.7:g.27332745G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27332745G>A Locations: - p.Ser1837Asn (Ensembl:ENSMUST00000049308) - c.5510G>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3552758423 | 1857 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.5) Somatic: No Accession: NC_000083.7:g.27332805C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27332805C>T Locations: - p.Ala1857Val (Ensembl:ENSMUST00000049308) - c.5570C>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389456799 | 1889 | N>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27333054A>T Codon: AAC/TAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27333054A>T Locations: - p.Asn1889Tyr (Ensembl:ENSMUST00000049308) - c.5665A>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389426089 | 1890 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27333057T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27333057T>C Locations: - p.Phe1890Leu (Ensembl:ENSMUST00000049308) - c.5668T>C (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389440505 | 1993 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000083.7:g.27333823C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27333823C>G Locations: - p.Asp1993Glu (Ensembl:ENSMUST00000049308) - c.5979C>G (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389438386 | 2002 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27333848C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27333848C>A Locations: - p.Leu2002Met (Ensembl:ENSMUST00000049308) - c.6004C>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389462678 | 2016 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27333891T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27333891T>C Locations: - p.Leu2016Pro (Ensembl:ENSMUST00000049308) - c.6047T>C (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389447102 | 2059 | L>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27334190T>G Codon: CTT/CGT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27334190T>G Locations: - p.Leu2059Arg (Ensembl:ENSMUST00000049308) - c.6176T>G (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389445477 | 2060 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27334192T>A Codon: TCC/ACC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27334192T>A Locations: - p.Ser2060Thr (Ensembl:ENSMUST00000049308) - c.6178T>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389437797 | 2073 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27334231G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27334231G>A Locations: - p.Val2073Met (Ensembl:ENSMUST00000049308) - c.6217G>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389462664 | 2092 | N>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27334660A>C Codon: AAT/ACT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27334660A>C Locations: - p.Asn2092Thr (Ensembl:ENSMUST00000049308) - c.6275A>C (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389462725 | 2192 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27335154C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27335154C>T Locations: - p.Leu2192Phe (Ensembl:ENSMUST00000049308) - c.6574C>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389456761 | 2235 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27335594T>C Codon: TCG/CCG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27335594T>C Locations: - p.Ser2235Pro (Ensembl:ENSMUST00000049308) - c.6703T>C (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389448705 | 2248 | F>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27335634T>G Codon: TTC/TGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27335634T>G Locations: - p.Phe2248Cys (Ensembl:ENSMUST00000049308) - c.6743T>G (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389395760 | 2276 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27335718G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27335718G>T Locations: - p.Gly2276Val (Ensembl:ENSMUST00000049308) - c.6827G>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389456737 | 2279 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000083.7:g.27335727C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27335727C>A Locations: - p.Pro2279His (Ensembl:ENSMUST00000049308) - c.6836C>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389462697 | 2285 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27335745G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27335745G>A Locations: - p.Gly2285Asp (Ensembl:ENSMUST00000049308) - c.6854G>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389359177 | 2291 | N>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27336146A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27336146A>G Locations: - p.Asn2291Asp (Ensembl:ENSMUST00000049308) - c.6871A>G (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389414764 | 2315 | M>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27336220G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27336220G>A Locations: - p.Met2315Ile (Ensembl:ENSMUST00000049308) - c.6945G>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389456804 | 2315 | M>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27336218A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27336218A>T Locations: - p.Met2315Leu (Ensembl:ENSMUST00000049308) - c.6943A>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389448688 | 2334 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27336276T>A Codon: TTT/TAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27336276T>A Locations: - p.Phe2334Tyr (Ensembl:ENSMUST00000049308) - c.7001T>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389447116 | 2371 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27336789C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27336789C>T Locations: - p.Thr2371Ile (Ensembl:ENSMUST00000049308) - c.7112C>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389448623 | 2388 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27336839C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27336839C>T Locations: - p.Leu2388Phe (Ensembl:ENSMUST00000049308) - c.7162C>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389448687 | 2394 | F>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27336857T>A Codon: TTC/ATC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27336857T>A Locations: - p.Phe2394Ile (Ensembl:ENSMUST00000049308) - c.7180T>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389445523 | 2434 | E>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000083.7:g.27337408G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27337408G>C Locations: - p.Glu2434Gln (Ensembl:ENSMUST00000049308) - c.7300G>C (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389440543 | 2445 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000083.7:g.27337524G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27337524G>A Locations: - p.Glu2445Lys (Ensembl:ENSMUST00000049308) - c.7333G>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3552985480 | 2450 | T>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000083.7:g.27337540C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27337540C>T Locations: - p.Thr2450Met (Ensembl:ENSMUST00000049308) - c.7349C>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389448680 | 2463 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27337579C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27337579C>T Locations: - p.Thr2463Ile (Ensembl:ENSMUST00000049308) - c.7388C>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389445507 | 2505 | I>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27338246A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27338246A>C Locations: - p.Ile2505Leu (Ensembl:ENSMUST00000049308) - c.7513A>C (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389414821 | 2513 | G>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27338270G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27338270G>T Locations: - p.Gly2513Trp (Ensembl:ENSMUST00000049308) - c.7537G>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389414790 | 2556 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27338886G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27338886G>A Locations: - p.Glu2556Lys (Ensembl:ENSMUST00000049308) - c.7666G>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3407477449 | 2564 | M>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27338911T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27338911T>C Locations: - p.Met2564Thr (Ensembl:ENSMUST00000049308) - c.7691T>C (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3407543404 | 2605 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27339936G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27339936G>A Locations: - p.Arg2605His (Ensembl:ENSMUST00000049308) - c.7814G>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389414792 | 2608 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27339945C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27339945C>T Locations: - p.Ser2608Phe (Ensembl:ENSMUST00000049308) - c.7823C>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs234299613 | 2612 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000083.7:g.27339956G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27339956G>A Locations: - p.Gly2612Ser (Ensembl:ENSMUST00000049308) - c.7834G>A (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389448655 | 2656 | R>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27340456G>T Codon: AGG/ATG Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27340456G>T Locations: - p.Arg2656Met (Ensembl:ENSMUST00000049308) - c.7967G>T (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: | |||||||
rs3389451699 | 2661 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000083.7:g.27340470T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 17q Genomic location: NC_000083.7:g.27340470T>C Locations: - p.Phe2661Leu (Ensembl:ENSMUST00000049308) - c.7981T>C (Ensembl:ENSMUST00000049308) Source type: large scale study Cross-references: |