C9R (p.Cys9Arg) variant of GATA6 (Transcription factor GATA-6)
C9R (p.Cys9Arg) in GATA6 (Transcription factor GATA-6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
C9R (p.Cys9Arg) variant details
- p.Cys9Arg
- TOPMed rs1251160301
- gnomAD rs1251160301
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available