NM_001127671.2:c.653dup

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HGVS Expressions

  • NG_011817.1:g.88533dup
  • NM_001127671.2:c.653dup
  • NP_001121143.1:p.Glu219GlyfsTer3
  • NC_000005.10:g.38511873dup

Associated Genes

Leukemia Inhibitory Factor Receptor
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

886042160

Clinvar

281444

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601559.9United Arab Emirates2PathogenicStuve-Wiedemann SyndromeSaleh et al. 2021
601559.G.1United Arab Emirates20PathogenicStuve-Wiedemann SyndromeBegam et al. 2011 10 patients; 6 pre-natal diagnoses
601559.G.2Oman; United Arab Emirate...2PathogenicStuve-Wiedemann SyndromeAl-Gazali et al. 1996; Dagoneau et al. 2004; Al-Gazali and Hamamy. 2014 50 patients from 28 Emirati families bel...
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Contributors

  • Pratibha Nair: 26.08.2020

Edit History

  • Pratibha Nair: 10.11.2022
  • Pratibha Nair: 23.08.2022
  • Pratibha Nair: 11.10.2021
  • Pratibha Nair: 26.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.