rs121912775
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs121912775(A;A) |
| Make rs121912775(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 2550020 |
| Gene | CACNA1C |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121912775 |
| dbSNP (classic) | rs121912775 |
| ClinGen | rs121912775 |
| ebi | rs121912775 |
| HLI | rs121912775 |
| Exac | rs121912775 |
| Gnomad | rs121912775 |
| Varsome | rs121912775 |
| LitVar | rs121912775 |
| Map | rs121912775 |
| PheGenI | rs121912775 |
| Biobank | rs121912775 |
| 1000 genomes | rs121912775 |
| hgdp | rs121912775 |
| ensembl | rs121912775 |
| geneview | rs121912775 |
| scholar | rs121912775 |
| rs121912775 | |
| pharmgkb | rs121912775 |
| gwascentral | rs121912775 |
| openSNP | rs121912775 |
| 23andMe | rs121912775 |
| SNPshot | rs121912775 |
| SNPdbe | rs121912775 |
| MSV3d | rs121912775 |
| GWAS Ctlg | rs121912775 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121912775(A;A) |
| Alt | rs121912775(A;A) |
| Reference | Rs121912775(G;G) |
| Significance | Pathogenic |
| Disease | Brugada syndrome 3 Brugada syndrome not specified Long QT syndrome Timothy syndrome |
| Variation | info |
| Gene | CACNA1C |
| CLNDBN | Brugada syndrome 3 Brugada syndrome not specified Long QT syndrome Timothy syndrome |
| Reversed | 0 |
| HGVS | NC_000012.11:g.2659186G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000019201.29, RCV000058286.3, RCV000170775.5, RCV000231239.2, RCV000334098.1, |
[PMID 17224476
] Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.
[PMID 20817017] Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.
