L10F (p.Leu10Phe) variant of GRN (Progranulin)
L10F (p.Leu10Phe) in GRN (Progranulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neuronal ceroid lipofuscinosis 11; GRN-related frontotemporal lobar degeneration. The record also includes published literature and structural context.
L10F (p.Leu10Phe) variant details
- p.Leu10Phe
- rs1256353751
- ClinGen CA399759073
- ClinVar RCV003033498
- Uncertain significance
- Neuronal ceroid lipofuscinosis 11; GRN-related frontotemporal lobar degeneration
- Missense
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis 11; GRN-related frontotemporal lo)
- 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)