Y7* (p.Tyr7Ter) variant of GJB1 (Gap junction beta-1 protein)
Y7* (p.Tyr7Ter) in GJB1 (Gap junction beta-1 protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in CMTX1. The record also includes published literature and structural context.
Y7* (p.Tyr7Ter) variant details
- p.Tyr7Ter
- rs2092541958
- ClinGen CA413499380
- ClinVar RCV002288368
- Likely pathogenic
- in CMTX1
- Stop Gained
- EBI: Likely pathogenic (in CMTX1)
- UniProt: Likely 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)