Variant: rs1405855570

present in Gene: GATA4 present in Chromosome: 8 Position on Chromosome: 11748917 Alleles of this Variant: A/G

rs1405855570 in GATA4 gene and ATRIOVENTRICULAR SEPTAL DEFECT 4 PMID 12845333 2003 GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5.

PMID 15235040 2004 A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family.