NM_000527.5:c.728G>A

HGVS Expressions

  • NG_009060.1:g.22218G>A
  • NM_000527.5:c.728G>A
  • NP_000518.1:p.Cys243Tyr
  • NC_000019.10:g.11106598G>A
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143890.55United Arab Emirates1NALikely PathogenicHypercholesterolemia, Familial, 1Rimbert et al. 2021 'Patient 53' in the publication. This pa...
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