Y33* (p.Tyr33Ter) variant of CLCN1 (Chloride channel protein 1)
Y33* (p.Tyr33Ter) in CLCN1 (Chloride channel protein 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Y33* (p.Tyr33Ter) variant details
- p.Tyr33Ter
- rs138922145
- ClinGen CA369677082
- ClinVar RCV001381379
- ESP rs138922145
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Myotonia Congenita. (PMID 20301529)