Variant: rs104893749 

    present in Gene: MYL3
    present in Chromosome: 3
    Position on Chromosome: 46859495
    Alleles of this Variant: C/A;T

rs104893749 in MYL3 gene and CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 PMID 8673105 1996 Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.

PMID 12021217 2002 Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology.

PMID 12707239 2003 Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

PMID 23594557 2013 Infantile hypertrophic cardiomyopathy associated with a novel MYL3 mutation.

rs104893749 in MYL3 gene and Cardiomyopathy, Familial Hypertrophic, 1 (disorder) PMID 22131351 2012 Mutations of ventricular essential myosin light chain disturb myosin binding and sarcomeric sorting.

PMID 8673105 1996 Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.