NM_174936.4:c.323T>G

HGVS Expressions

  • NG_009061.1:g.9412T>G
  • NM_174936.4:c.323T>G
  • NP_777596.2:p.Leu108Arg
  • NC_000001.11:g.55043958T>G
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

375849

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143890.60United Arab Emirates1NAUncertain SignificanceHypercholesterolemia, Familial, 1Rimbert et al. 2021 'Patient 423' in the publication. This p...
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