T935A (p.Thr935Ala) variant of MECOM (Q03112)
T935A (p.Thr935Ala) in MECOM (Q03112) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Radioulnar synostosis with amegakaryocytic thrombocytopenia 2. The record also includes variant effect predictions and published literature.
T935A (p.Thr935Ala) variant details
- p.Thr935Ala
- rs864309722
- ClinGen CA278798
- ClinVar RCV000203299
- UniProt VAR 076310
- Pathogenic
- Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
- Missense
- MutPred 0.45
- ClinVar: Pathogenic (Radioulnar synostosis with amegakaryocytic thrombocytopenia 2)
- EBI: Pathogenic (in RUSAT2)
- UniProt: Pathogenic (in RUSAT2)
- Cited in: Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia. (PMID 26581901)