R929Q (p.Arg929Gln) variant of MECOM (Q03112)
R929Q (p.Arg929Gln) in MECOM (Q03112) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of MECOM-associated syndrome; not provided.
R929Q (p.Arg929Gln) variant details
- p.Arg929Gln
- rs2549268925
- cosmic curated COSV52975
- NCI-TCGA Cosmic COSV5296
- cosmic curated COSV52961
- Pathogenic
- MECOM-associated syndrome; not provided
- Missense
- ClinVar: Pathogenic (MECOM-associated syndrome; not provided)
- EBI: Pathogenic (in RUSAT2)
- UniProt: Pathogenic (in RUSAT2)