NM_000435.3:c.4581_4594del

  1. Home
  2. NM_000435.3:c.4581_4594del

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
Back to search Result
CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
125310.3United Arab Emirates2Likely PathogenicCerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and LeukoencephalopathySaleh et al. 2021 Similarly affected cousins
Download Table

Contributors

  • Pratibha Nair: 13.01.2022

Edit History

  • Rahila Mir: 08.02.2022
  • Pratibha Nair: 13.01.2022
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.