R215W (p.Arg215Trp) variant of GJB1 (Gap junction beta-1 protein)
R215W (p.Arg215Trp) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Charcot-Marie-Tooth Neuropathy X; not provided; Charcot-Marie-Tooth disease X-li. The record also includes published literature and structural context.
R215W (p.Arg215Trp) variant details
- p.Arg215Trp
- rs879254099
- ClinGen CA10584644
- cosmic curated COSV10820
- ClinVar RCV000236009
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth Neuropathy X; not provided; Charcot-Marie-Tooth disease X-li
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth Neuropathy X; not provided; Charcot-Marie-To)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations. (PMID 10234007)
- Cited in: Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population. (PMID 10732813)