P97445 · CAC1A_MOUSE
- ProteinVoltage-dependent P/Q-type calcium channel subunit alpha-1A
- GeneCacna1a
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids2368 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388995733 | 135 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85188222C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85188222C>A Locations: - p.Leu135Met (Ensembl:ENSMUST00000121390) - c.403C>A (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388992666 | 139 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85189324G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85189324G>A Locations: - p.Glu139Lys (Ensembl:ENSMUST00000121390) - c.415G>A (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388989170 | 147 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85189348T>A Codon: TGT/AGT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85189348T>A Locations: - p.Cys147Ser (Ensembl:ENSMUST00000121390) - c.439T>A (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3389001245 | 153 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85189368G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85189368G>C Locations: - p.Lys153Asn (Ensembl:ENSMUST00000121390) - c.459G>C (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388989152 | 231 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85245294T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85245294T>A Locations: - p.Ile231Asn (Ensembl:ENSMUST00000121390) - c.692T>A (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388966073 | 242 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85245328T>G Codon: TTT/TTG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85245328T>G Locations: - p.Phe242Leu (Ensembl:ENSMUST00000121390) - c.726T>G (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3412868929 | 251 | M>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85245353A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85245353A>T Locations: - p.Met251Leu (Ensembl:ENSMUST00000121390) - c.751A>T (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388995701 | 368 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85262703G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85262703G>A Locations: - p.Glu368Lys (Ensembl:ENSMUST00000121390) - c.1102G>A (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388999802 | 377 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85262730G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85262730G>T Locations: - p.Ala377Ser (Ensembl:ENSMUST00000121390) - c.1129G>T (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388989991 | 377 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85262731C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85262731C>T Locations: - p.Ala377Val (Ensembl:ENSMUST00000121390) - c.1130C>T (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388994102 | 395 | M>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85262785T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85262785T>C Locations: - p.Met395Thr (Ensembl:ENSMUST00000121390) - c.1184T>C (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3399364849 | 404 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85263037T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85263037T>A Locations: - p.Val404Glu (Ensembl:ENSMUST00000121390) - c.1211T>A (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3399074413 | 409 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85263051G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85263051G>A Locations: - p.Asp409Asn (Ensembl:ENSMUST00000121390) - c.1225G>A (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388994085 | 413 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000074.7:g.85263063G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85263063G>A Locations: - p.Val413Met (Ensembl:ENSMUST00000121390) - c.1237G>A (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388996767 | 439 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85264120G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85264120G>T Locations: - p.Glu439Asp (Ensembl:ENSMUST00000121390) - c.1317G>T (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388972394 | 463 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85271235G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85271235G>A Locations: - p.Ala463Thr (Ensembl:ENSMUST00000121390) - c.1387G>A (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388999834 | 468 | S>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85271251C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85271251C>T Locations: - p.Ser468Leu (Ensembl:ENSMUST00000121390) - c.1403C>T (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388995712 | 469 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85271254C>A Codon: ACT/AAT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85271254C>A Locations: - p.Thr469Asn (Ensembl:ENSMUST00000121390) - c.1406C>A (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388995748 | 500 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85271346G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85271346G>T Locations: - p.Ala500Ser (Ensembl:ENSMUST00000121390) - c.1498G>T (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388995743 | 510 | H>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85271376C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85271376C>A Locations: - p.His510Asn (Ensembl:ENSMUST00000121390) - c.1528C>A (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388994292 | 511 | Y>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85271380A>T Codon: TAC/TTC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85271380A>T Locations: - p.Tyr511Phe (Ensembl:ENSMUST00000121390) - c.1532A>T (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3399353757 | 529 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85275160A>C Codon: TTA/TTC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85275160A>C Locations: - p.Leu529Phe (Ensembl:ENSMUST00000121390) - c.1587A>C (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3389001285 | 548 | Y>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85275216A>T Codon: TAC/TTC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85275216A>T Locations: - p.Tyr548Phe (Ensembl:ENSMUST00000121390) - c.1643A>T (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388997256 | 581 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85276149A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85276149A>G Locations: - p.Ile581Val (Ensembl:ENSMUST00000121390) - c.1741A>G (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388997026 | 591 | R>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000074.7:g.85276179C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 8q Genomic location: NC_000074.7:g.85276179C>T Locations: - p.Arg591Ter (Ensembl:ENSMUST00000121390) - c.1771C>T (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388999854 | 595 | V>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85276192T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85276192T>C Locations: - p.Val595Ala (Ensembl:ENSMUST00000121390) - c.1784T>C (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388994310 | 614 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85276356A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85276356A>G Locations: - p.Lys614Glu (Ensembl:ENSMUST00000121390) - c.1840A>G (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388990048 | 638 | F>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85276428T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85276428T>G Locations: - p.Phe638Val (Ensembl:ENSMUST00000121390) - c.1912T>G (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388996744 | 643 | N>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85276998A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85276998A>G Locations: - p.Asn643Asp (Ensembl:ENSMUST00000121390) - c.1927A>G (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
649 | P>L | tg (UniProt) | UniProt | ||||
Consequence: missense Somatic: No Accession: Consequence type: missense Cytogenetic band: 8q Genomic location: Locations: - p.Pro649Leu (UniProt:P97445) Source type: uniprot | |||||||
rs3388977564 | 659 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85277046G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85277046G>T Locations: - p.Ala659Ser (Ensembl:ENSMUST00000121390) - c.1975G>T (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388994284 | 662 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85277056C>A Codon: ACT/AAT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85277056C>A Locations: - p.Thr662Asn (Ensembl:ENSMUST00000121390) - c.1985C>A (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs243397432 | 686 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85279702G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85279702G>A Locations: - p.Val686Met (Ensembl:ENSMUST00000121390) - c.2056G>A (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388989076 | 700 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85279744A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85279744A>G Locations: - p.Thr700Ala (Ensembl:ENSMUST00000121390) - c.2098A>G (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3399279043 | 769 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85285662A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85285662A>T Locations: - p.Asn769Ile (Ensembl:ENSMUST00000121390) - c.2306A>T (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3399340334 | 769 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85285663C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85285663C>G Locations: - p.Asn769Lys (Ensembl:ENSMUST00000121390) - c.2307C>G (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3399353732 | 770 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85285666G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85285666G>C Locations: - p.Gln770His (Ensembl:ENSMUST00000121390) - c.2310G>C (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3399354632 | 772 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85285671C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85285671C>T Locations: - p.Pro772Leu (Ensembl:ENSMUST00000121390) - c.2315C>T (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3399392862 | 839 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85285871A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85285871A>G Locations: - p.Ser839Gly (Ensembl:ENSMUST00000121390) - c.2515A>G (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3399354663 | 912 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85286091G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85286091G>T Locations: - p.Arg912Leu (Ensembl:ENSMUST00000121390) - c.2735G>T (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3398444450 | 920 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85286115C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85286115C>T Locations: - p.Ala920Val (Ensembl:ENSMUST00000121390) - c.2759C>T (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3399365234 | 938 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000074.7:g.85286170C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85286170C>G Locations: - p.Asp938Glu (Ensembl:ENSMUST00000121390) - c.2814C>G (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388999781 | 1011 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85292645A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85292645A>T Locations: - p.Asp1011Val (Ensembl:ENSMUST00000121390) - c.3032A>T (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388972439 | 1016 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85292660A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85292660A>T Locations: - p.Asp1016Val (Ensembl:ENSMUST00000121390) - c.3047A>T (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs248217374 | 1040 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85292733C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85292733C>G Locations: - p.His1040Gln (Ensembl:ENSMUST00000121390) - c.3120C>G (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs238914463 | 1087 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85292873C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85292873C>T Locations: - p.Pro1087Leu (Ensembl:ENSMUST00000121390) - c.3260C>T (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388997051 | 1116 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85292959C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85292959C>T Locations: - p.Pro1116Ser (Ensembl:ENSMUST00000121390) - c.3346C>T (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388946865 | 1172 | Y>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85294352T>A Codon: TAC/AAC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85294352T>A Locations: - p.Tyr1172Asn (Ensembl:ENSMUST00000121390) - c.3514T>A (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3399437038 | 1205 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85296597T>A Codon: ATT/AAT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85296597T>A Locations: - p.Ile1205Asn (Ensembl:ENSMUST00000121390) - c.3614T>A (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3399182837 | 1208 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85296607C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85296607C>G Locations: - p.Ser1208Arg (Ensembl:ENSMUST00000121390) - c.3624C>G (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388989956 | 1237 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85297857G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85297857G>T Locations: - p.Gly1237Val (Ensembl:ENSMUST00000121390) - c.3710G>T (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388999828 | 1260 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85298455T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85298455T>C Locations: - p.Phe1260Leu (Ensembl:ENSMUST00000121390) - c.3778T>C (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388996985 | 1271 | V>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85298489T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85298489T>A Locations: - p.Val1271Glu (Ensembl:ENSMUST00000121390) - c.3812T>A (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388994047 | 1277 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85298506G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85298506G>T Locations: - p.Val1277Leu (Ensembl:ENSMUST00000121390) - c.3829G>T (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388989132 | 1307 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85306172A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85306172A>T Locations: - p.Thr1307Ser (Ensembl:ENSMUST00000121390) - c.3919A>T (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388972409 | 1313 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85306192G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85306192G>C Locations: - p.Lys1313Asn (Ensembl:ENSMUST00000121390) - c.3939G>C (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388997214 | 1404 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85307947T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85307947T>C Locations: - p.Leu1404Pro (Ensembl:ENSMUST00000121390) - c.4211T>C (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388977609 | 1428 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85310226A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85310226A>G Locations: - p.Gln1428Arg (Ensembl:ENSMUST00000121390) - c.4283A>G (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs51731170 | 1490 | I>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85313697C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85313697C>G Locations: - p.Ile1490Met (Ensembl:ENSMUST00000121390) - c.4470C>G (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388946857 | 1534 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85313827C>A Codon: CTA/ATA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85313827C>A Locations: - p.Leu1534Ile (Ensembl:ENSMUST00000121390) - c.4600C>A (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388997060 | 1546 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000074.7:g.85315404A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85315404A>T Locations: - p.Glu1546Asp (Ensembl:ENSMUST00000121390) - c.4638A>T (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388999852 | 1558 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85315438T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85315438T>C Locations: - p.Ser1558Pro (Ensembl:ENSMUST00000121390) - c.4672T>C (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3410331989 | 1560 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85315444T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85315444T>C Locations: - p.Phe1560Leu (Ensembl:ENSMUST00000121390) - c.4678T>C (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388946927 | 1562 | L>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85315451T>A Codon: CTC/CAC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85315451T>A Locations: - p.Leu1562His (Ensembl:ENSMUST00000121390) - c.4685T>A (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388989169 | 1607 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85328032C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85328032C>G Locations: - p.Asn1607Lys (Ensembl:ENSMUST00000121390) - c.4821C>G (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388983321 | 1619 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85328066C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85328066C>A Locations: - p.Leu1619Ile (Ensembl:ENSMUST00000121390) - c.4855C>A (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388994277 | 1626 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85328088G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85328088G>A Locations: - p.Gly1626Asp (Ensembl:ENSMUST00000121390) - c.4877G>A (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388949183 | 1640 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85328131C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85328131C>A Locations: - p.Phe1640Leu (Ensembl:ENSMUST00000121390) - c.4920C>A (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388997230 | 1667 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85328564C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85328564C>A Locations: - p.Asn1667Lys (Ensembl:ENSMUST00000121390) - c.5001C>A (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388965995 | 1669 | G>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85328569G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85328569G>C Locations: - p.Gly1669Ala (Ensembl:ENSMUST00000121390) - c.5006G>C (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388992656 | 1671 | D>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85328574G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85328574G>C Locations: - p.Asp1671His (Ensembl:ENSMUST00000121390) - c.5011G>C (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388996687 | 1758 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85338929G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85338929G>A Locations: - p.Val1758Ile (Ensembl:ENSMUST00000121390) - c.5272G>A (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388949227 | 1860 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85344518T>A Codon: ATT/AAT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85344518T>A Locations: - p.Ile1860Asn (Ensembl:ENSMUST00000121390) - c.5579T>A (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388949157 | 1929 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85356544G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85356544G>A Locations: - p.Arg1929Gln (Ensembl:ENSMUST00000121390) - c.5786G>A (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388994251 | 1934 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85359839C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85359839C>T Locations: - p.Arg1934Trp (Ensembl:ENSMUST00000121390) - c.5800C>T (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs213842732 | 1974 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000074.7:g.85360055G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85360055G>A Locations: - p.Gly1974Ser (Ensembl:ENSMUST00000121390) - c.5920G>A (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3388949160 | 2047 | R>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85360373G>C Codon: CGC/CCC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85360373G>C Locations: - p.Arg2047Pro (Ensembl:ENSMUST00000121390) - c.6140G>C (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3399354054 | 2052 | N>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85360389C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85360389C>G Locations: - p.Asn2052Lys (Ensembl:ENSMUST00000121390) - c.6156C>G (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3398898381 | 2163 | H>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85365346A>T Codon: CAC/CTC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85365346A>T Locations: - p.His2163Leu (Ensembl:ENSMUST00000121390) - c.6488A>T (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3546880015 | 2193 | R>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85365435C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85365435C>T Locations: - p.Arg2193Trp (Ensembl:ENSMUST00000121390) - c.6577C>T (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3398445531 | 2215 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85365873A>T Codon: AGT/TGT Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85365873A>T Locations: - p.Ser2215Cys (Ensembl:ENSMUST00000121390) - c.6643A>T (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3546813330 | 2277 | C>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85366060G>T Codon: TGC/TTC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85366060G>T Locations: - p.Cys2277Phe (Ensembl:ENSMUST00000121390) - c.6830G>T (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3399394420 | 2280 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000074.7:g.85366068G>C Codon: GCG/CCG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85366068G>C Locations: - p.Ala2280Pro (Ensembl:ENSMUST00000121390) - c.6838G>C (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3399280360 | 2315 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000074.7:g.85366174C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85366174C>G Locations: - p.Ala2315Gly (Ensembl:ENSMUST00000121390) - c.6944C>G (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: | |||||||
rs3399445293 | 2324 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000074.7:g.85366201C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 8q Genomic location: NC_000074.7:g.85366201C>G Locations: - p.Ala2324Gly (Ensembl:ENSMUST00000121390) - c.6971C>G (Ensembl:ENSMUST00000121390) Source type: large scale study Cross-references: |