G29C (p.Gly29Cys) variant of GATA4 (Transcription factor GATA-4)
G29C (p.Gly29Cys) 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 structural context.
G29C (p.Gly29Cys) variant details
- p.Gly29Cys
- rs1053092495
- ClinGen CA370308809
- ClinVar RCV004395122
- TOPMed rs1053092495
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available