C53S (p.Cys53Ser) variant of GJB1 (Gap junction beta-1 protein)
C53S (p.Cys53Ser) 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 disease. The record also includes published literature and structural context.
C53S (p.Cys53Ser) variant details
- p.Cys53Ser
- rs1602348863
- ClinGen CA413501193
- ClinVar RCV000789198
- Ensembl rs1602348863
- Uncertain significance
- Charcot-Marie-Tooth disease
- Missense
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families. (PMID 8889588)
- Cited in: Connexin32 and X-linked Charcot-Marie-Tooth disease. (PMID 9361298)