R22* (p.Arg22Ter) variant of GJB1 (Gap junction beta-1 protein)
R22* (p.Arg22Ter) 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.
R22* (p.Arg22Ter) variant details
- p.Arg22Ter
- rs1555937020
- ClinGen CA413500696
- ClinVar RCV000516443
- ClinVar RCV000763633
- 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)