S17C (p.Ser17Cys) variant of GJB1 (Gap junction beta-1 protein)
S17C (p.Ser17Cys) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Charcot-Marie-Tooth disease. The record also includes published literature and structural context.
S17C (p.Ser17Cys) variant details
- p.Ser17Cys
- rs1555937009
- ClinGen CA413499562
- ClinVar RCV000512762
- Ensembl rs1555937009
- Likely pathogenic
- Charcot-Marie-Tooth disease
- Missense
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)