Variant: rs398124126 

    present in Gene: COL6A3
    present in Chromosome: 2
    Position on Chromosome: 237361120
    Alleles of this Variant: C/T

rs398124126 in COL6A3 gene and BETHLEM MYOPATHY 1 PMID 15563506 2005 Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.

rs398124126 in COL6A3 gene and Ullrich congenital muscular dystrophy 1 PMID 19564581 2009 Natural history of Ullrich congenital muscular dystrophy.

PMID 15563506 2005 Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.