Ventricular tachycardia, catecholaminergic polymorphic, 4
OMIM:614916Mode of inheritance:Autosomal dominant
Disease classification:Diseases of the circulatory system
Mutations
| Gene Symbol | CALM1 |
|---|---|
| Reference transcript | NM_006888.4 |
| DNA Change | c.268T>C |
| A.A. Change | p.Phe90Leu |
| Exon/Intron | exon 4 |
| Mutation Type | substitution |
| Reference | Marsman RF, Barc J, Beekman L, Alders M, Dooijes D, van den Wijngaard A, Ratbi I, Sefiani A, Bhuiyan ZA, Wilde AA, Bezzina CR.A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence. J Am Coll Cardiol. 2014 Jan 28;63(3):259-66. |