Variant: rs121913617 

    present in Gene: MYH3
    present in Chromosome: 17
    Position on Chromosome: 10641317
    Alleles of this Variant: C/T

rs121913617 in MYH3 gene and Freeman-Sheldon syndrome PMID 18695058 2008 Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally.

PMID 16642020 2006 Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.