S50C (p.Ser50Cys) variant of GJB1 (Gap junction beta-1 protein)
S50C (p.Ser50Cys) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth Neuropathy X; Inborn genetic diseases; not provided. The record also includes published literature and structural context.
S50C (p.Ser50Cys) variant details
- p.Ser50Cys
- rs2092542910
- ClinGen CA413501143
- ClinVar RCV001288927
- ClinVar RCV001871724
- Uncertain significance
- Charcot-Marie-Tooth Neuropathy X; Inborn genetic diseases; not provided
- Missense
- ClinVar: Uncertain significance (Charcot-Marie-Tooth Neuropathy X; Inborn genetic diseases; not p)
- EBI: Variant of uncertain significance (in CMTX1)
- UniProt: Uncertain significance (in CMTX1)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)