Variant: rs145734640

present in Gene: MHRT;MYH7 present in Chromosome: 14 Position on Chromosome: 23415096 Alleles of this Variant: G/A;C;T

rs145734640 in MHRT;MYH7 gene and Myopathy, Hyaline Body, Autosomal Recessive PMID 25666907 2015 Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy.