C568R (p.Cys568Arg) variant of NOTCH3 (Q9UM47)
C568R (p.Cys568Arg) in NOTCH3 (Q9UM47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoen. The record also includes published literature and structural context.
C568R (p.Cys568Arg) variant details
- p.Cys568Arg
- rs2512657786
- ClinGen CA404525184
- ClinVar RCV003227557
- ClinVar RCV006435332
- Likely pathogenic
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoen
- Missense
- ClinVar: Likely pathogenic (Cerebral arteriopathy, autosomal dominant, with subcortical infa)
- EBI: Likely pathogenic
- UniProt: Likely 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)