NM_014856.3:c.2702_2703insGCAGC

HGVS Expressions

  • NM_014856.3:c.2702_2703insGCAGC
  • NP_055671.2:p.Gln903HisfsTer48
  • NC_000001.11:g.153934830_153934831insGCTGC
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Insertion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
619843.1Saudi Arabia1Likely PathogenicMonies et al. 2017
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