NM_000435.3:c.1369T>C

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HGVS Expressions

  • NG_009819.1:g.16984T>C
  • NM_000435.3:c.1369
  • NP_000426.2:p.Cys457Arg

Associated Genes

Notch Receptor 3
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Genomic Location

chr19:15188998

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
125310.1Lebanon1Likely PathogenicCerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and LeukoencephalopathyJalkh et al. 2019
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Contributors

  • Pratibha Nair: 25.11.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 25.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.