NM_000435.2:c.3691C>T

HGVS Expressions

  • NG_009819.1:g.26930C>T
  • NM_000435.2:c.3691C>T
  • NP_000426.2:p.Arg1231Cys
  • NC_000019.10:g.15179052G>A

Associated Genes

Notch Receptor 3
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

216972

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
125310.2United Arab Emirates1Likely PathogenicCerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and LeukoencephalopathySaleh et al. 2021 De novo mutation
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