A9P (p.Ala9Pro) variant of GATA4 (Transcription factor GATA-4)
A9P (p.Ala9Pro) in GATA4 (Transcription factor GATA-4) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in TOF. The record also includes published literature and structural context.
A9P (p.Ala9Pro) variant details
- p.Ala9Pro
- rs864321699
- UniProt VAR 071514
- TOPMed rs864321699
- gnomAD rs864321699
- Pathogenic
- in TOF
- Missense
- EBI: Pathogenic (in TOF)
- UniProt: Pathogenic (in TOF)
- Structural context available
- Cited in: GATA4 loss-of-function mutations underlie familial tetralogy of fallot. (PMID 24000169)
- Cited in: GATA4 mutations in 486 Chinese patients with congenital heart disease. (PMID 18672102)