W3R (p.Trp3Arg) variant of GJB1 (Gap junction beta-1 protein)
W3R (p.Trp3Arg) 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 not provided; Charcot-Marie-Tooth disease X-linked dominant 1. The record also includes published literature and structural context.
W3R (p.Trp3Arg) variant details
- p.Trp3Arg
- rs1602348537
- ClinGen CA413499277
- ClinVar RCV000789227
- ClinVar RCV002473134
- Uncertain significance
- not provided; Charcot-Marie-Tooth disease X-linked dominant 1
- Missense
- ClinVar: Uncertain significance (not provided; Charcot-Marie-Tooth disease X-linked dominant 1)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Connexin32 and X-linked Charcot-Marie-Tooth disease. (PMID 9361298)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)