R960H (p.Arg960His) variant of MECOM (Q03112)
R960H (p.Arg960His) in MECOM (Q03112) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Radioulnar synostosis. The record also includes population frequency data.
R960H (p.Arg960His) variant details
- p.Arg960His
- rs2148891008
- ClinGen CA355074043
- NCI-TCGA Cosmic COSV5296
- cosmic curated COSV52961
- Pathogenic
- Radioulnar synostosis
- Missense
- ClinVar: Pathogenic (Radioulnar synostosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available