Y298C (p.Tyr298Cys) variant of GATA4 (Transcription factor GATA-4)
Y298C (p.Tyr298Cys) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Atrial septal defect 2. The record also includes structural context.
Y298C (p.Tyr298Cys) variant details
- p.Tyr298Cys
- rs2486975103
- ClinGen CA370313125
- ClinVar RCV003991307
- Likely pathogenic
- Atrial septal defect 2
- Missense
- ClinVar: Likely pathogenic (Atrial septal defect 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available