G296R (p.Gly296Arg) variant of GATA4 (Transcription factor GATA-4)
G296R (p.Gly296Arg) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ventricular septal defect 1. The record also includes published literature and structural context.
G296R (p.Gly296Arg) variant details
- p.Gly296Arg
- rs104894073
- ClinGen CA212673
- ClinVar RCV000023011
- UniProt VAR 067613
- Pathogenic
- Ventricular septal defect 1
- Missense
- ClinVar: Pathogenic (Ventricular septal defect 1)
- EBI: Pathogenic (in VSD1)
- UniProt: Pathogenic (in VSD1)
- Structural context available
- Cited in: A novel GATA4 mutation responsible for congenital ventricular septal defects. (PMID 21637914)
- Cited in: GATA4 mutations in 486 Chinese patients with congenital heart disease. (PMID 18672102)