NM_000527.5:c.1477_1479delinsAGAGACA

HGVS Expressions

  • NG_009060.1:g.29273_29275delinsAGAGACA
  • NM_000527.5:c.1477_1479delinsAGAGACA
  • NP_000518.1:p.Ser493fs
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Genomic Location

chr19:11113653-11113655

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Indel

Clinvar

251866

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143890.44.01Tunisia1PathogenicHypercholesterolemia, Familial, 1Slimane et al. 2001 The variant was found to result in a mil...
143890.44.02Tunisia1PathogenicHypercholesterolemia, Familial, 1Slimane et al. 2001 Wife and first cousin of 143890.44.01
143890.44.03Tunisia1PathogenicHypercholesterolemia, Familial, 1Slimane et al. 2001 First cousin of 143890.44.01. Married to...
143890.44.04Tunisia1PathogenicHypercholesterolemia, Familial, 1Slimane et al. 2001 Husband and First cousin of 143890.44.03
143890.44.05Tunisia2PathogenicHypercholesterolemia, Familial, 1Slimane et al. 2001 Daughter of 143890.44.01
143890.44.06Tunisia2PathogenicHypercholesterolemia, Familial, 1Slimane et al. 2001 Son of 143890.44.01
143890.44.07Tunisia2PathogenicHypercholesterolemia, Familial, 1Slimane et al. 2001 Daughter of 143890.44.01
143890.44.08Tunisia2PathogenicHypercholesterolemia, Familial, 1Slimane et al. 2001 Daughter of 143890.44.03
143890.44.09Tunisia2PathogenicHypercholesterolemia, Familial, 1Slimane et al. 2001 Son of 143890.44.03
143890.44.10Tunisia2PathogenicHypercholesterolemia, Familial, 1Slimane et al. 2001 Son of 143890.44.03
143890.44.11Tunisia1PathogenicHypercholesterolemia, Familial, 1Slimane et al. 2001 First cousin once removed of 143890.44.0...
143890.44.12Tunisia1PathogenicHypercholesterolemia, Familial, 1Slimane et al. 2001 First cousin once removed of 143890.44.0...
143890.44.13Tunisia1PathogenicHypercholesterolemia, Familial, 1Slimane et al. 2001 Daughter of 143890.44.11
143890.44.14Tunisia2PathogenicHypercholesterolemia, Familial, 1Slimane et al. 2001 Son of 143890.44.11
143890.44.15Tunisia2PathogenicHypercholesterolemia, Familial, 1Slimane et al. 2001 Son of 143890.44.11
143890.44.16Tunisia1PathogenicHypercholesterolemia, Familial, 1Slimane et al. 2001 Daughter of 143890.44.11
143890.44.17Tunisia2PathogenicHypercholesterolemia, Familial, 1Slimane et al. 2001 Daughter of 143890.44.11
143890.45.1Tunisia1PathogenicHypercholesterolemia, Familial, 1Slimane et al. 2001
143890.45.2Tunisia1PathogenicHypercholesterolemia, Familial, 1Slimane et al. 2001 Married to first cousin 143890.45.1
143890.45.3Tunisia2PathogenicHypercholesterolemia, Familial, 1Slimane et al. 2001 Daughter of 143890.45.1
143890.46Tunisia2PathogenicHypercholesterolemia, Familial, 1Slimane et al. 2001
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