Variant: rs121434589 

    present in Gene: MYH2;MYHAS
    present in Chromosome: 17
    Position on Chromosome: 10535137
    Alleles of this Variant: C/T

rs121434589 in MYH2;MYHAS gene and INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT PMID 11114175 2000 Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene.

PMID 25313375 2014 Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.