R22G (p.Arg22Gly) variant of GJB1 (Gap junction beta-1 protein)
R22G (p.Arg22Gly) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease. The record also includes published literature and structural context.
R22G (p.Arg22Gly) variant details
- p.Arg22Gly
- rs1555937020
- ClinGen CA413500694
- ClinVar RCV000789932
- Ensembl rs1555937020
- Uncertain significance
- Charcot-Marie-Tooth disease
- Missense
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population. (PMID 10732813)
- Cited in: Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth… (PMID 11571214)