Y69C (p.Tyr69Cys) variant of MPL (Thrombopoietin receptor)
Y69C (p.Tyr69Cys) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia. The record also includes structural context.
Y69C (p.Tyr69Cys) variant details
- p.Tyr69Cys
- rs2545673818
- ClinGen CA339973122
- ClinVar RCV002303247
- Uncertain significance
- Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia
- Missense
- ClinVar: Uncertain significance (Congenital amegakaryocytic thrombocytopenia; Essential thrombocy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available