Variant: rs121434525 

    present in Gene: ACTN2
    present in Chromosome: 1
    Position on Chromosome: 236686699
    Alleles of this Variant: A/G

rs121434525 in ACTN2 gene and Cardiomyopathy, Dilated, 1AA PMID 14567970 2004 Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis.

PMID 25224718 2014 Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death.