NC_000002.12:g.18480458-21282545del

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HGVS Expressions

  • NC_000002.12:g.18480458-21282545del
  • NC_000002.12:g.18480458-21282545del
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
188400.2United Arab Emirates1Likely PathogenicDiGeorge SyndromeAlabdullatif et al. 2017
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Contributors

  • Pratibha Nair: 21.06.2022

Edit History

  • Sami Bizzari: 17.01.2023
  • Sami Bizzari: 16.01.2023
  • Pratibha Nair: 21.06.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.