Variant: rs1167405466 

    present in Gene: NOTCH3;MIR6795
    present in Chromosome: 19
    Position on Chromosome: 15180761
    Alleles of this Variant: T/C

rs1167405466 in NOTCH3;MIR6795 gene and CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 PMID 24000151 2013 Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.

PMID 15378071 2004 Detection of the founder effect in Finnish CADASIL families.

PMID 9388399 1997 Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients.

PMID 15818833 2005 Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

PMID 16009764 2005 Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies.

PMID 12136071 2002 C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke.

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

PMID 15364702 2004 Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients.

PMID 12810003 2003 Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis.

PMID 15350543 2004 CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk.

PMID 15300988 2004 Gene symbol: NOTCH3. Disease: CADASIL.

PMID 10854111 2000 Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains.

PMID 10227618 1999 Quantitative MRI in CADASIL: correlation with disability and cognitive performance.

PMID 10371548 1999 Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group.

PMID 11102981 2000 Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content.

PMID 11559313 2001 A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings.

PMID 11058919 2000 Identification of a novel mutation C144F in the Notch3 gene in an Australian CADASIL pedigree.

PMID 11810186 2002 Reversible coma with raised intracranial pressure: an unusual clinical manifestation of CADASIL.

PMID 12589106 2003 A novel mutation (C67Y)in the NOTCH3 gene in a Korean CADASIL patient.

PMID 10802807 2000 Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL.