Variant: rs121912940 

    present in Gene: COL6A2
    present in Chromosome: 21
    Position on Chromosome: 46115881
    Alleles of this Variant: G/A

rs121912940 in COL6A2 gene and BETHLEM MYOPATHY 1 PMID 17886299 2007 Molecular consequences of dominant Bethlem myopathy collagen VI mutations.

PMID 11865138 2002 Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.

PMID 8782832 1996 Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures.

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

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