S26W (p.Ser26Trp) variant of GJB1 (Gap junction beta-1 protein)
S26W (p.Ser26Trp) 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. The record also includes published literature and structural context.
S26W (p.Ser26Trp) variant details
- p.Ser26Trp
- rs587777876
- ClinGen CA413500799
- ClinVar RCV000535675
- ClinVar RCV000789319
- Pathogenic
- Charcot-Marie-Tooth Neuropathy X
- Missense
- ClinVar: Pathogenic (Charcot-Marie-Tooth Neuropathy X)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause… (PMID 11437164)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)