Variant: rs397517065 

    present in Gene: ACTC1;LOC101928174
    present in Chromosome: 15
    Position on Chromosome: 34792471
    Alleles of this Variant: G/A

rs397517065 in ACTC1;LOC101928174 gene and Multiple congenital anomalies PMID 24461919 2014 Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect.

PMID 22464770 2012 Genetic testing for dilated cardiomyopathy in clinical practice.

PMID 17947298 2008 Alpha-cardiac actin mutations produce atrial septal defects.

PMID 17611253 2007 Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects.

PMID 27139165 2016 A gain-of-function ACTC1 3'UTR mutation that introduces a miR-139-5p target site may be associated with a dominant familial atrial septal defect.