Variant: rs11903206

present in Gene: COL6A3 present in Chromosome: 2 Position on Chromosome: 237336278 Alleles of this Variant: G/A

rs11903206 in COL6A3 gene and BETHLEM MYOPATHY 1 PMID 15689448 2005 Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

PMID 9536084 1998 Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy.

PMID 17886299 2007 Molecular consequences of dominant Bethlem myopathy collagen VI mutations.

PMID 10399756 1999 A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen.