W49* (p.Trp49Ter) variant of GRN (Progranulin)
W49* (p.Trp49Ter) in GRN (Progranulin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
W49* (p.Trp49Ter) variant details
- p.Trp49Ter
- rs1598362746
- ClinGen CA399759583
- ClinVar RCV000995778
- Ensembl rs1598362746
- 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: GRN Frontotemporal Dementia. (PMID 20301545)