NM_000527.4:c.2439G>A

HGVS Expressions

  • NG_009060.1:g.45182G>A
  • NM_000527.4:c.2439G>A
  • NP_000518.1:p.Trp813Ter
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Genomic Location

chr19:11129562

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

3703

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143890.47Bahrain2PathogenicHypercholesterolemia, Familial, 1Lehrman et al. 1985
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