HGVS Expressions

  • NG_009819.1:g.31759_31772del
  • NM_000435.3:c.4581_4594del
  • NP_000426.2:p.Ser1528AlafsTer30
  • NC_000019.10:g.15174213_15174226del

Associated Genes

Notch Receptor 3
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Clinical Significance

Likely Pathogenic

Variant Type


Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
125310.3United Arab Emirates2Likely PathogenicCerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and LeukoencephalopathySaleh et al. 2021 Similarly affected cousins
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