S133C (p.Ser133Cys) variant of GATA4 (Transcription factor GATA-4)
S133C (p.Ser133Cys) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes published literature.
S133C (p.Ser133Cys) variant details
- p.Ser133Cys
- rs864321701
- ClinGen CA347946
- ClinVar RCV000203586
- Ensembl rs864321701
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- 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)