rs199473282
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs199473282(A;A) |
| Make rs199473282(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 38551513 |
| Gene | SCN5A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199473282 |
| dbSNP (classic) | rs199473282 |
| ClinGen | rs199473282 |
| ebi | rs199473282 |
| HLI | rs199473282 |
| Exac | rs199473282 |
| Gnomad | rs199473282 |
| Varsome | rs199473282 |
| LitVar | rs199473282 |
| Map | rs199473282 |
| PheGenI | rs199473282 |
| Biobank | rs199473282 |
| 1000 genomes | rs199473282 |
| hgdp | rs199473282 |
| ensembl | rs199473282 |
| geneview | rs199473282 |
| scholar | rs199473282 |
| rs199473282 | |
| pharmgkb | rs199473282 |
| gwascentral | rs199473282 |
| openSNP | rs199473282 |
| 23andMe | rs199473282 |
| SNPshot | rs199473282 |
| SNPdbe | rs199473282 |
| MSV3d | rs199473282 |
| GWAS Ctlg | rs199473282 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199473282(A;A) rs199473282(T;T) |
| Alt | rs199473282(A;A) rs199473282(T;T) |
| Reference | Rs199473282(C;C) |
| Significance | Pathogenic |
| Disease | Brugada syndrome 1 Brugada syndrome Cardiac conduction defect |
| Variation | info |
| Gene | SCN5A |
| CLNDBN | Brugada syndrome 1 Brugada syndrome Cardiac conduction defect, nonspecific |
| Reversed | 1 |
| HGVS | NC_000003.11:g.38593004G>A; NC_000003.11:g.38593004G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009965.5, RCV000058715.2, RCV000144031.2, RCV000058714.3, |
[PMID 18065446] Combination of cardiac conduction disease and long QT syndrome caused by mutation T1620K in the cardiac sodium channel.
[PMID 21552533
] Alternative splicing of the cardiac sodium channel creates multiple variants of mutant T1620K channels.
[PMID 9521325] Genetic basis and molecular mechanism for idiopathic ventricular fibrillation.
[PMID 20129283] An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
