D23F (p.Asp23Phe) variant of GATA6 (Transcription factor GATA-6)
D23F (p.Asp23Phe) in GATA6 (Transcription factor GATA-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atrioventricular septal defect 5. The record also includes structural context.
D23F (p.Asp23Phe) variant details
- p.Asp23Phe
- rs2510625048
- ClinGen CA2580095468
- ClinVar RCV003085369
- Uncertain significance
- Atrioventricular septal defect 5
- Missense
- ClinVar: Uncertain significance (Atrioventricular septal defect 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available