Variant: rs387906608 

    present in Gene: COL6A2
    present in Chromosome: 21
    Position on Chromosome: 46132118
    Alleles of this Variant: C/A;G;T

rs387906608 in COL6A2 gene and Ullrich congenital muscular dystrophy 1 PMID 21078917 2010 Consensus statement on standard of care for congenital muscular dystrophies.

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

PMID 15689448 2005 Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.