Variant: rs587777710 

    present in Gene: GATA6
    present in Chromosome: 18
    Position on Chromosome: 22171856
    Alleles of this Variant: G/T

rs587777710 in GATA6 gene and Congenital diaphragmatic hernia PMID 24385578 2014 In the second, a nonsense mutation (c.712G>T, p.G238*) was identified in two siblings with CDH and a large ventricular septal defect.

rs587777710 in GATA6 gene and Gastrointestinal malrotation PMID 24385578 2014 Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.

rs587777710 in GATA6 gene and Patent ductus arteriosus PMID 24385578 2014 The G238* mutation was inherited from their mother, who was clinically affected with congenital absence of the pericardium, patent ductus arteriosus and intestinal malrotation.

rs587777710 in GATA6 gene and Totally absent pericardium PMID 24385578 2014 The G238* mutation was inherited from their mother, who was clinically affected with congenital absence of the pericardium, patent ductus arteriosus and intestinal malrotation.

rs587777710 in GATA6 gene and Ventricular Septal Defects PMID 24385578 2014 Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.