R83G (p.Arg83Gly) variant of MECOM (Q03112)
R83G (p.Arg83Gly) in MECOM (Q03112) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases.
R83G (p.Arg83Gly) variant details
- p.Arg83Gly
- NCI-TCGA Cosmic COSV7211
- cosmic curated COSV72110
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance