Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|
p.V4771I | c.14311G>A |
Inherited Arrhythmia | CPVT | | SIFT: tolerated Polyphen: benign |
Reports | Inherited Arrhythmia | CPVT |
Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002 106(1):69-74.
12093772 |
Inherited Arrhythmia | CPVT |
Successful treatment of catecholaminergic polymorphic ventricular tachycardia with flecainide: a case report and review of the current literature. Europace. 2011 13(6):897-901.
21292648 |
Inherited Arrhythmia | CPVT |
The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol. 2009 54(22):2065-74.
19926015 |
Inherited Arrhythmia | CPVT |
Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. Circ J. 2013 77(7):1705-13.
23595086 |
Inherited Arrhythmia | CPVT |
New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circ Cardiovasc Genet. 2013 6(5):481-9. doi: 10.1161/CIRCGENETICS.113.000118.
24025405 |
Inherited Arrhythmia | CPVT |
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. J Med Genet. 2014 51(1):35-44. doi: 10.1136/jmedgenet-2013-101917.
24136861 |