E128V (p.Glu128Val) variant of GATA4 (Transcription factor GATA-4)
E128V (p.Glu128Val) 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.
E128V (p.Glu128Val) variant details
- p.Glu128Val
- rs864321700
- ClinGen CA347958
- ClinVar RCV000203602
- Ensembl rs864321700
- Pathogenic
- Congenital heart disease
- Missense
- ClinVar: Pathogenic (Congenital heart disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)