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.