W24C (p.Trp24Cys) variant of GJB1 (Gap junction beta-1 protein)
W24C (p.Trp24Cys) 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 disease; Charcot-Marie-Tooth Neuropathy X. The record also includes published literature and structural context.
W24C (p.Trp24Cys) variant details
- p.Trp24Cys
- rs1602348658
- ClinGen CA413500761
- ClinVar RCV001173557
- ClinVar RCV002559664
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Neuropathy X
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Neuropathy X)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease. (PMID 12185164)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)