Variant: rs1323608032 

    present in Gene: NOTCH3
    present in Chromosome: 19
    Position on Chromosome: 15189109
    Alleles of this Variant: C/A

rs1323608032 in NOTCH3 gene and CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 PMID 10712431 2000 The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients.

PMID 12146805 2002 CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia.

PMID 11755616 2001 Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis.

PMID 19245392 2009 Acute confusional migraine may be a presenting feature of CADASIL.