Variant: rs121908675 

    present in Gene: LARGE1
    present in Chromosome: 22
    Position on Chromosome: 33304434
    Alleles of this Variant: C/A;T

rs121908675 in LARGE1 gene and Muscular Dystrophy, Congenital, Type 1D PMID 12966029 2003 Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.

PMID 21078917 2010 Consensus statement on standard of care for congenital muscular dystrophies.