G159S (p.Gly159Ser) variant of GJB1 (Gap junction beta-1 protein)
G159S (p.Gly159Ser) 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 X-linked dominant. The record also includes published literature and structural context.
G159S (p.Gly159Ser) variant details
- p.Gly159Ser
- rs1555937194
- ClinGen CA413502674
- ClinVar RCV000529489
- ClinVar RCV000789250
- Pathogenic
- Charcot-Marie-Tooth Neuropathy X; Charcot-Marie-Tooth disease X-linked dominant
- Missense
- ClinVar: Pathogenic (Charcot-Marie-Tooth Neuropathy X; Charcot-Marie-Tooth disease X-)
- 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: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)