G296C (p.Gly296Cys) variant of GATA4 (Transcription factor GATA-4)
G296C (p.Gly296Cys) 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 Atrial septal defect 2. The record also includes published literature and structural context.
G296C (p.Gly296Cys) variant details
- p.Gly296Cys
- rs104894073
- ClinGen CA212668
- ClinVar RCV000023001
- UniProt VAR 067612
- Pathogenic
- Atrial septal defect 2
- Missense
- ClinVar: Pathogenic (Atrial septal defect 2)
- EBI: Pathogenic (in ASD2)
- UniProt: Pathogenic (in ASD2)
- Structural context available
- Cited in: Spectrum of heart disease associated with murine and human GATA4 mutation. (PMID 17643447)
- Cited in: GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. (PMID 12845333)