NM_000527.4:c.1706-2A>T

HGVS Expressions

  • NG_009060.1:g.32477A>T
  • NM_000527.4:c.1706-2A>T
  • "Arabic Allele"
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Genomic Location

chr19:11116857

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

237865

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143890.22.01Arab1PathogenicHypercholesterolemia, Familial, 1Shawar et al. 2012 Proband
143890.22.02Arab1PathogenicHypercholesterolemia, Familial, 1Shawar et al. 2012 Wife of 143890.22.01
143890.22.03Arab1PathogenicHypercholesterolemia, Familial, 1Shawar et al. 2012 Daughter of 143890.22.01
143890.22.04Arab2PathogenicHypercholesterolemia, Familial, 1Shawar et al. 2012 Son of 143890.22.01
143890.22.05Arab2PathogenicHypercholesterolemia, Familial, 1Shawar et al. 2012 Son of 143890.22.01
143890.22.06Arab2PathogenicHypercholesterolemia, Familial, 1Shawar et al. 2012 Son of 143890.22.01
143890.22.07Arab2PathogenicHypercholesterolemia, Familial, 1Shawar et al. 2012 Son of 143890.22.01
143890.22.08Arab2PathogenicHypercholesterolemia, Familial, 1Shawar et al. 2012 Son of 143890.22.01
143890.22.09Arab2PathogenicHypercholesterolemia, Familial, 1Shawar et al. 2012 Son of 143890.22.01
143890.22.10Arab2PathogenicHypercholesterolemia, Familial, 1Shawar et al. 2012 Daughter of 143890.22.01
143890.23.1Arab1PathogenicHypercholesterolemia, Familial, 1Shawar et al. 2012 Proband
143890.23.2Arab1PathogenicHypercholesterolemia, Familial, 1Shawar et al. 2012 Wife of 143890.23.1
143890.23.3Arab1PathogenicHypercholesterolemia, Familial, 1Shawar et al. 2012 Daughter of 143890.23.1
143890.23.4Arab1PathogenicHypercholesterolemia, Familial, 1Shawar et al. 2012 Daughter of 143890.23.1
143890.23.5Arab1PathogenicHypercholesterolemia, Familial, 1Shawar et al. 2012 Daughter of 143890.23.1
143890.23.6Arab2PathogenicHypercholesterolemia, Familial, 1Shawar et al. 2012 Son of 143890.23.1
143890.23.7Arab1PathogenicHypercholesterolemia, Familial, 1Shawar et al. 2012 Daughter of 143890.23.1
143890.23.8Arab1PathogenicHypercholesterolemia, Familial, 1Shawar et al. 2012 Son of 143890.23.1
143890.23.9Arab2PathogenicHypercholesterolemia, Familial, 1Shawar et al. 2012 Son of 143890.23.1
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