R15W (p.Arg15Trp) variant of GJB1 (Gap junction beta-1 protein)
R15W (p.Arg15Trp) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Charcot-Marie-Tooth Neuropathy X; Charcot-Marie-Tooth disease; not provided. The record also includes published literature and structural context.
R15W (p.Arg15Trp) variant details
- p.Arg15Trp
- rs116840815
- ClinGen CA333982
- ClinVar RCV000020174
- ClinVar RCV000167902
- Pathogenic
- Charcot-Marie-Tooth Neuropathy X; Charcot-Marie-Tooth disease; not provided
- Missense
- ClinVar: Pathogenic (Charcot-Marie-Tooth Neuropathy X; Charcot-Marie-Tooth disease; n)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. (PMID 11835375)
- Cited in: Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). (PMID 9099841)