present in Gene: GJA1
present in Chromosome: 6
Position on Chromosome: 121447974
Alleles of this Variant: G/A
rs104893965 in
GJA1 gene and
ATRIOVENTRICULAR SEPTAL DEFECT 3
PMID 11470490 2001 Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE).
rs104893965 in
GJA1 gene and
HYPOPLASTIC LEFT HEART SYNDROME 1
PMID 11470490 2001 Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE).