NC_000011.11:g.196966_30453791dup

HGVS Expressions

  • NC_000011.11:g.196966_30453791dup
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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
130650.2United Arab Emirates1Likely PathogenicBeckwith-Wiedemann SyndromeAlabdullatif et al. 2017
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