R283H (p.Arg283His) variant of GATA4 (Transcription factor GATA-4)
R283H (p.Arg283His) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Atrial septal defect 2; Atrioventricular septal defect 4; Testicular anomalies w. The record also includes population frequency data and structural context.
R283H (p.Arg283His) variant details
- p.Arg283His
- rs180765750
- ClinGen CA172114436
- cosmic curated COSV58733
- ClinVar RCV001330680
- Pathogenic/Likely pathogenic
- Atrial septal defect 2; Atrioventricular septal defect 4; Testicular anomalies w
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Atrial septal defect 2; Atrioventricular septal defect 4; Testic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available