S62R (p.Ser62Arg) variant of GJB1 (Gap junction beta-1 protein)
S62R (p.Ser62Arg) 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 Hereditary neuropathy or pain disorder; Charcot-Marie-Tooth Neuropathy X. The record also includes published literature and structural context.
S62R (p.Ser62Arg) variant details
- p.Ser62Arg
- rs2519797987
- ClinGen CA413501331
- ClinVar RCV002843908
- Pathogenic
- Hereditary neuropathy or pain disorder; Charcot-Marie-Tooth Neuropathy X
- Missense
- ClinVar: Pathogenic (Charcot-Marie-Tooth Neuropathy X)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)