W44* (p.Trp44Ter) variant of GJB1 (Gap junction beta-1 protein)
W44* (p.Trp44Ter) in GJB1 (Gap junction beta-1 protein) is a protein-truncating 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.
W44* (p.Trp44Ter) variant details
- p.Trp44Ter
- rs1555937063
- ClinGen CA10581119
- ClinVar RCV003742107
- Ensembl rs1555937063
- Pathogenic
- in CMTX1
- Stop Gained
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)