A41V (p.Ala41Val) variant of RUNX1 (Q01196)
A41V (p.Ala41Val) in RUNX1 (Q01196) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary thrombocytopenia and hematologic cancer predisposition syndrome. The record also includes structural context.
A41V (p.Ala41Val) variant details
- p.Ala41Val
- cosmic curated COSV55891
- Ensembl rs927005033
- Uncertain significance
- Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary thrombocytopenia and hematologic cancer predispositio)
- UniProt: Uncertain significance
- Structural context available