G42C (p.Gly42Cys) variant of RUNX1 (Q01196)
G42C (p.Gly42Cys) in RUNX1 (Q01196) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
G42C (p.Gly42Cys) variant details
- p.Gly42Cys
- ExAC rs777168865
- TOPMed rs777168865
- gnomAD rs777168865
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Structural context available