R142G (p.Arg142Gly) variant of GJB1 (Gap junction beta-1 protein)
R142G (p.Arg142Gly) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X; not provided. The record also includes structural context.
R142G (p.Arg142Gly) variant details
- p.Arg142Gly
- cosmic curated COSV10527
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X; not provided
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X; not p)
- UniProt: Likely pathogenic (in CMTX1)
- Structural context available