D46* (p.Asp46Ter) variant of GJB1 (Gap junction beta-1 protein)
D46* (p.Asp46Ter) in GJB1 (Gap junction beta-1 protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
D46* (p.Asp46Ter) variant details
- p.Asp46Ter
- rs2519797837
- ClinGen CA2697553165
- ClinVar RCV003581444
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)