Variant: rs1555872965 

    present in Gene: COL6A2
    present in Chromosome: 21
    Position on Chromosome: 46116378
    Alleles of this Variant: G/A;T

rs1555872965 in COL6A2 gene and Muscle hypotonia 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 18852439 2008 Autosomal recessive myosclerosis myopathy is a collagen VI disorder.

PMID 20976770 2010 Early onset collagen VI myopathies: Genetic and clinical correlations.

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

PMID 25204870 2015 Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.

PMID 25533456 2015 Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.

PMID 23564457 2013 COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy.

PMID 19949035 2009 Autosomal recessive Bethlem myopathy.

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

PMID 22426012 2012 Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.