S26* (p.Ser26Ter) variant of GJB1 (Gap junction beta-1 protein)
S26* (p.Ser26Ter) 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.
S26* (p.Ser26Ter) variant details
- p.Ser26Ter
- rs587777876
- ClinGen CA413500798
- ClinVar RCV000789270
- ClinVar RCV003447217
- 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)
- Cited in: GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes. (PMID 20301548)