G42A (p.Gly42Ala) variant of RUNX1 (Q01196)
G42A (p.Gly42Ala) in RUNX1 (Q01196) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary thrombocytopenia and hematologic cancer predisposition syndrome. The record also includes structural context.
G42A (p.Gly42Ala) variant details
- p.Gly42Ala
- ExAC rs769235124
- gnomAD rs769235124
- Uncertain significance
- Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary thrombocytopenia and hematologic cancer predispositio)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available