R929W (p.Arg929Trp) variant of MECOM (Q03112)
R929W (p.Arg929Trp) in MECOM (Q03112) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of MECOM-associated syndrome; Radioulnar synostosis with amegakaryocytic thrombocyt. The record also includes variant effect predictions and published literature.
R929W (p.Arg929Trp) variant details
- p.Arg929Trp
- rs864309724
- ClinGen CA278795
- ClinVar RCV000203298
- ClinVar RCV004589874
- Pathogenic/Likely pathogenic
- MECOM-associated syndrome; Radioulnar synostosis with amegakaryocytic thrombocyt
- Missense
- MutPred 0.62
- ClinVar: Pathogenic/Likely pathogenic (MECOM-associated syndrome; Radioulnar synostosis with amegakaryo)
- EBI: Pathogenic (in RUSAT2)
- UniProt: Pathogenic (in RUSAT2)
- Cited in: A case of congenital bone marrow failure with radio-ulnar synostosis. (PMID 20091385)
- Cited in: Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia. (PMID 26581901)