CALM1

Gene name: calmodulin 1 (phosphorylase kinase, delta)
OMIM ID: 114180
Chromosome location: 14q32.11

Mutations

Disease/Phenotype	Ventricular tachycardia, catecholaminergic polymorphic, 4
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.

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