C295S (p.Cys295Ser) variant of GATA4 (Transcription factor GATA-4)
C295S (p.Cys295Ser) 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 Atrioventricular septal defect 4.
C295S (p.Cys295Ser) variant details
- p.Cys295Ser
- rs2486975023
- ClinGen CA370313109
- ClinVar RCV003643821
- Pathogenic
- Atrioventricular septal defect 4
- Missense
- ClinVar: Pathogenic (Atrioventricular septal defect 4)
- EBI: Pathogenic
- UniProt: Pathogenic