G47D (p.Gly47Asp) variant of RUNX1 (Q01196)
G47D (p.Gly47Asp) in RUNX1 (Q01196) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
G47D (p.Gly47Asp) variant details
- p.Gly47Asp
- Ensembl rs2146411670
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available