HGVS Expressions

  • NG_054729.1:g.44766T>G
  • NM_014975.3:c.3539T>G
  • NP_055790.1:p.Leu1180Arg
  • NC_000019.10:g.12873696T>G
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CTGA Clinical Significance

Likely Pathogenic

Variant Type


Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612256.1United Arab Emirates1Likely PathogenicIntellectual Deficiency, UnclassifiedBen-Mahmoud et al. 2020 Proband with de novo mutation
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