Variant: rs587777383 

    present in Gene: ACTG2
    present in Chromosome: 2
    Position on Chromosome: 73909130
    Alleles of this Variant: C/A;T

rs587777383 in ACTG2 gene and Chronic intestinal pseudo-obstruction PMID 26813947 2016 Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction.

PMID 24337657 2014 De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.

PMID 24676022 2014 Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

PMID 25998219 2015 New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome).

rs587777383 in ACTG2 gene and Visceral Myopathy PMID 24777424 2014 Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction.

PMID 24337657 2014 De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.

PMID 22960657 2012 Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy.

PMID 24676022 2014 Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.