C597W (p.Cys597Trp) variant of NOTCH3 (Q9UM47)
C597W (p.Cys597Trp) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoen. The record also includes published literature and structural context.
C597W (p.Cys597Trp) variant details
- p.Cys597Trp
- rs2512657457
- ClinGen CA404524754
- ClinVar RCV002471944
- ClinVar RCV006281026
- Pathogenic/Likely pathogenic
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoen
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Cerebral arteriopathy, autosomal dominant, with subcortical infa)
- 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: CADASIL. (PMID 20301673)