Variant: rs121913649 

    present in Gene: MYH7;MHRT
    present in Chromosome: 14
    Position on Chromosome: 23413847
    Alleles of this Variant: T/A

rs121913649 in MYH7;MHRT gene and MYOPATHY, MYOSIN STORAGE (disorder) PMID 16684601 2006 Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.

PMID 15136674 2004 Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.

PMID 17336526 2007 MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.

PMID 14520662 2003 Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.