Variant: rs1209610920 

    present in Gene: MIR6795;NOTCH3
    present in Chromosome: 19
    Position on Chromosome: 15178878
    Alleles of this Variant: C/T

rs1209610920 in MIR6795;NOTCH3 gene and CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 PMID 12136071 2002 C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke.

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

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

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

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

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

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

PMID 24000151 2013 Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.

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

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

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

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