NM_000527.4:c.2027del

HGVS Expressions

  • NG_009060.1:g.36029del
  • NM_000527.4:c.2027del
  • NP_000518.1:p.Gly676fs
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Genomic Location

chr19:11120409

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

226383

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143890.33.1Saudi Arabia2PathogenicHypercholesterolemia, Familial, 1Al-Allaf et al. 2016 Proband
143890.33.2Saudi Arabia1PathogenicHypercholesterolemia, Familial, 1Al-Allaf et al. 2016 Father of 143890.33.1
143890.33.3Saudi Arabia1PathogenicHypercholesterolemia, Familial, 1Al-Allaf et al. 2016 Mother of 143890.33.1
143890.33.4Saudi Arabia1PathogenicHypercholesterolemia, Familial, 1Al-Allaf et al. 2016 Brother of 143890.33.1
143890.33.5Saudi Arabia1PathogenicHypercholesterolemia, Familial, 1Al-Allaf et al. 2016 Sister of 143890.33.1
143890.33.6Saudi Arabia1PathogenicHypercholesterolemia, Familial, 1Al-Allaf et al. 2016 Sister of 143890.33.1
143890.34.1Saudi Arabia2PathogenicHypercholesterolemia, Familial, 1Al-Allaf et al. 2016 Proband
143890.34.2Saudi Arabia2PathogenicHypercholesterolemia, Familial, 1Al-Allaf et al. 2016 Sister of 143890.34.1
143890.34.3Saudi Arabia1PathogenicHypercholesterolemia, Familial, 1Al-Allaf et al. 2016 Father of 143890.34.1
143890.34.4Saudi Arabia1PathogenicHypercholesterolemia, Familial, 1Al-Allaf et al. 2016 Mother of 143890.34.1
143890.35.1Saudi Arabia2PathogenicHypercholesterolemia, Familial, 1Al-Allaf et al. 2016 Proband
143890.35.2Saudi Arabia1PathogenicHypercholesterolemia, Familial, 1Al-Allaf et al. 2016 Sister of 143890.35.1
143890.36Saudi Arabia2PathogenicHypercholesterolemia, Familial, 1Al-Allaf et al. 2016
143890.37Saudi Arabia2PathogenicHypercholesterolemia, Familial, 1Al-Allaf et al. 2016
143890.38Saudi Arabia2PathogenicHypercholesterolemia, Familial, 1Al-Allaf et al. 2016
143890.40Saudi Arabia1PathogenicHypercholesterolemia, Familial, 1Al-Allaf et al. 2016
143890.41Saudi Arabia1PathogenicHypercholesterolemia, Familial, 1Al-Allaf et al. 2016
143890.42Saudi Arabia1PathogenicHypercholesterolemia, Familial, 1Al-Allaf et al. 2016
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