C60R (p.Cys60Arg) variant of GJB1 (Gap junction beta-1 protein)
C60R (p.Cys60Arg) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Charcot-Marie-Tooth Neuropathy X. The record also includes published literature and structural context.
C60R (p.Cys60Arg) variant details
- p.Cys60Arg
- rs1060501004
- ClinGen CA16616545
- ClinVar RCV000456635
- ClinVar RCV000493246
- Pathogenic/Likely pathogenic
- not provided; Charcot-Marie-Tooth Neuropathy X
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; Charcot-Marie-Tooth Neuropathy X)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)