HGVS Expressions

  • NM_004753.7:c.328G>A
  • NP_004744.2:p.Val110Ile
  • NC_000001.11:g.12580534C>T
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CTGA Clinical Significance

Uncertain Significance

Variant Type


Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612830.1Jordan2Uncertain SignificanceIntellectual Deficiency, Autosomal Recessive, Unclassified Has three similarly affected siblings, o...
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