|| common in complete genomics
|?|| (A;A) (A;G) (G;G) ||28|
[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.
|| Insufficiently evaluated benign
|| SNC5A is the cardiac sodium channel gene. Mutations in this gene have been associated with idiopathic ventricular fibrillation and Burgunda Syndrome, however, the R34C mutation of the gene has been largely identified as benign with no noticeable phenotypic effect. Although this gene is associated with acquired Long-QT syndrome (alQTS) Yang et al. found no difference in the frequency of this variant in alQTS patients and controls (3% versus 3%). AFFECT PROTEIN FUNCTION