NC_000017.11:g.42875129_43570427dup

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HGVS Expressions

  • NC_000017.11:g.42875129_43570427dup
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610443.2United Arab Emirates1Likely PathogenicKoolen-De Vries SyndromeAlabdullatif et al. 2017
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Contributors

  • Pratibha Nair: 22.06.2022

Edit History

  • Pratibha Nair: 22.06.2022
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© CAGS 2024. All rights reserved.