Variant: rs121912938 

    present in Gene: COL6A1
    present in Chromosome: 21
    Position on Chromosome: 45989129
    Alleles of this Variant: G/A

rs121912938 in COL6A1 gene and BETHLEM MYOPATHY 1 PMID 17785674 2007 Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease.

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

PMID 7695699 1994 Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.

PMID 24801232 2014 Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy.

PMID 18825676 2008 Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.

PMID 24038877 2013 Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.

PMID 16130093 2005 Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.

PMID 19564581 2009 Natural history of Ullrich congenital muscular dystrophy.

PMID 19344236 2009 Collagen structure and stability.

rs121912938 in COL6A1 gene and Ullrich congenital muscular dystrophy 1 PMID 17785674 2007 Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease.

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

PMID 16130093 2005 Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.

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