Geno
|
Mag
|
Summary
|
(C;C)
|
0
|
common (and likely to be benign)
|
(T;T)
|
0
|
common in clinvar
|
[PMID 26401487] Mutational analysis of SCN5A gene in long QT syndrome
[PMID 26497660] Novel association of polymorphic genetic variants with predictors of outcome of catheter ablation in atrial fibrillation: new directions from a prospective study (DECAF)
ClinVar
|
Risk
|
Rs6599230(C;C) |
Alt
|
Rs6599230(C;C) |
Reference
|
Rs6599230(T;T) |
Significance |
Probable-non-pathogenic |
Disease |
not specified Cardiovascular phenotype Romano-Ward syndrome Sick sinus syndrome Brugada syndrome Progressive familial heart block Paroxysmal familial ventricular fibrillation Dilated Cardiomyopathy Long QT syndrome |
Variation | info |
---|
Gene |
SCN5A |
CLNDBN |
not specified Cardiovascular phenotype Romano-Ward syndrome Sick sinus syndrome Brugada syndrome Progressive familial heart block Paroxysmal familial ventricular fibrillation Dilated Cardiomyopathy, Dominant Long QT syndrome |
Reversed |
0 |
HGVS |
NC_000003.11:g.38674712T>C |
CLNSRC |
|
CLNACC |
RCV000041640.9, RCV000249089.1, RCV000289272.1, RCV000292966.1, RCV000344291.1, RCV000347707.1, RCV000383571.1, RCV000387171.1, RCV000408022.1, |