W44C (p.Trp44Cys) variant of GJB1 (Gap junction beta-1 protein)
W44C (p.Trp44Cys) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Charcot-Marie-Tooth Neuropathy X; not provided. The record also includes published literature and structural context.
W44C (p.Trp44Cys) variant details
- p.Trp44Cys
- rs879253935
- ClinGen CA10584635
- ClinVar RCV000235491
- ClinVar RCV000789296
- Likely pathogenic
- Charcot-Marie-Tooth Neuropathy X; not provided
- Missense
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth Neuropathy X; not provided)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)