Variant: rs797044947 

    present in Gene: COL4A2-AS1;COL4A2
    present in Chromosome: 13
    Position on Chromosome: 110503855
    Alleles of this Variant: G/A

rs797044947 in COL4A2-AS1;COL4A2 gene and Muscle hypotonia PMID 24001601 2014 Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke.

PMID 26708157 2016 A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.

PMID 25719457 2015 The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.

PMID 22333902 2012 COL4A2 mutation associated with familial porencephaly and small-vessel disease.

PMID 22209247 2012 COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.

PMID 22209246 2012 De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly.

PMID 24390199 2014 COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy.

rs797044947 in COL4A2-AS1;COL4A2 gene and PORENCEPHALY 2 PMID 22333902 2012 COL4A2 mutation associated with familial porencephaly and small-vessel disease.