W49C (p.Trp49Cys) variant of GRN (Progranulin)
W49C (p.Trp49Cys) in GRN (Progranulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ce. The record also includes published literature and structural context.
W49C (p.Trp49Cys) variant details
- p.Trp49Cys
- rs1277918638
- ClinGen CA399759589
- ClinVar RCV003803383
- Uncertain significance
- GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ce
- Missense
- ClinVar: Uncertain significance (GRN-related frontotemporal lobar degeneration with Tdp43 inclusi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)