W51* (p.Trp51Ter) variant of CHRNA4 (P43681)
W51* (p.Trp51Ter) in CHRNA4 (P43681) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature.
W51* (p.Trp51Ter) variant details
- p.Trp51Ter
- rs2516573282
- ClinGen CA409643590
- ClinVar RCV003012345
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)