| Geno
|
Mag
|
Summary
|
| (G;G)
|
0
|
common in complete genomics
|
| ClinVar
|
| Risk
|
rs6791924(A;A) |
| Alt
|
rs6791924(A;A) |
| Reference
|
Rs6791924(G;G) |
| Significance |
Other |
| Disease |
not specified not provided Cardiovascular phenotype Long QT syndrome Sick sinus syndrome Romano-Ward syndrome Progressive familial heart block Brugada syndrome Dilated Cardiomyopathy Paroxysmal familial ventricular fibrillation |
| Variation | info |
|---|
| Gene |
SCN5A |
| CLNDBN |
not specified not provided Cardiovascular phenotype Long QT syndrome Sick sinus syndrome Romano-Ward syndrome Progressive familial heart block Brugada syndrome Dilated Cardiomyopathy, Dominant Paroxysmal familial ventricular fibrillation |
| Reversed |
0 |
| HGVS |
NC_000003.11:g.38674699G>A |
| CLNSRC |
UniProtKB (protein) |
| CLNACC |
RCV000041594.3, RCV000058380.4, RCV000244721.1, RCV000263131.1, RCV000277696.1, RCV000302827.1, RCV000318270.1, RCV000332754.1, RCV000357684.1, RCV000372880.1, |
[PMID 19214780
] In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).
[PMID 11997281] Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.
[PMID 17161064] Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes.
[PMID 17675083] Novel mutation in the SCN5A gene associated with arrhythmic storm development during acute myocardial infarction.
[PMID 17993325] Genetic predisposition and cellular basis for ischemia-induced ST-segment changes and arrhythmias.
[PMID 19841300] Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
] In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).
