NM_001177310.1:c.2983dup

HGVS Expressions

  • NM_001177310.1:c.2983dup
  • NP_001170781.1:p.Ser995PhefsTer17
  • NC_000009.12:g.74782777dup
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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
602014.1United Arab Emirates2Likely PathogenicHypomagnesemia 1, IntestinalAl Hussein et al. 2019
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