C53A (p.Cys53Ala) variant of GJB1 (Gap junction beta-1 protein)
C53A (p.Cys53Ala) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CMTX1. The record also includes published literature and structural context.
C53A (p.Cys53Ala) variant details
- p.Cys53Ala
- rs2519797920
- ClinGen CA2580101352
- ClinVar RCV003059216
- Pathogenic
- in CMTX1
- Missense
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)