Variant: rs886042883 

    present in Gene: COL6A3
    present in Chromosome: 2
    Position on Chromosome: 237359205
    Alleles of this Variant: C/A;T

rs886042883 in COL6A3 gene and BETHLEM MYOPATHY 1 PMID 15563506 2005 Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.

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

PMID 18366090 2008 Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.

PMID 28688748 2017 Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.

rs886042883 in COL6A3 gene and Muscle hypotonia 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 19949035 2009 Autosomal recessive Bethlem myopathy.

PMID 24271325 2013 Natural history of pulmonary function in collagen VI-related myopathies.

PMID 11381124 2001 Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI.

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

PMID 26872670 2016 The role of mutations in COL6A3 in isolated dystonia.

PMID 11932968 2002 Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy.

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

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

PMID 17537636 2007 Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families.

PMID 26004199 2015 Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.