NM_000500.9:c.1-?_1488+?del

HGVS Expressions

  • NM_000500.9:c.1-?_1488+?del
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Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
131100.2United Arab Emirates2Likely PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyChen Cardenas et al. 2020
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