Variant: rs121434545 

    present in Gene: CAPN3;LOC105370794
    present in Chromosome: 15
    Position on Chromosome: 42384501
    Alleles of this Variant: C/A;T

rs121434545 in CAPN3;LOC105370794 gene and Limb-girdle muscular dystrophy type 2A PMID 25135358 2014 Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.

PMID 7720071 1995 Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.