Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Ventricular tachycardia, catecholaminergic polymorphic, 4

OMIM:614916
Mode of inheritance:Autosomal dominant
Disease classification:Diseases of the circulatory system


Mutations

Gene SymbolCALM1
Reference transcriptNM_006888.4
DNA Changec.268T>C
A.A. Changep.Phe90Leu
Exon/Intronexon 4
Mutation Typesubstitution
ReferenceMarsman 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.