A8D (p.Ala8Asp) variant of GATA4 (Transcription factor GATA-4)
A8D (p.Ala8Asp) 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 Congenital heart disease. The record also includes published literature and structural context.
A8D (p.Ala8Asp) variant details
- p.Ala8Asp
- rs864321698
- ClinGen CA347945
- ClinVar RCV000203585
- gnomAD rs864321698
- Pathogenic
- Congenital heart disease
- Missense
- ClinVar: Pathogenic (Congenital heart disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of… (PMID 19038677)
- Cited in: 2018 AHA/ACC Guideline for the Management of Adults With Congenital Heart Disease: A Report of the American College of… (PMID 30121239)