Variant: rs587777384 

    present in Gene: ACTG2
    present in Chromosome: 2
    Position on Chromosome: 73913566
    Alleles of this Variant: G/A;T

rs587777384 in ACTG2 gene and Multiple congenital anomalies PMID 22960657 2012 Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy.

PMID 19098683 2009 Three-generation familial visceral myopathy with alpha-actin-positive inclusion bodies in intestinal smooth muscle.

PMID 25782675 2015 Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.

PMID 26669664 2016 A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.

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 28383543 2017 Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.

rs587777384 in ACTG2 gene and Visceral Myopathy PMID 24676022 2014 Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

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

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

PMID 24777424 2014 Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction.

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

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).