"Lebanese Allele" NM_000527.4:c.2043C>A

HGVS Expressions

  • NG_009060.1:g.36045C>A
  • NM_000527.4:c.2043C>A
  • NP_000518.1:p.Cys681Ter
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Genomic Location

chr19:11120425

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

Variant Type

Substitution

Clinvar

3699

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143890.1.1Lebanon2NALikely Pathogenic, PathogenicHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient A1 in publication
143890.1.2Lebanon2NALikely Pathogenic, PathogenicHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient A2 in publication, uncle of 1438...
143890.2.1Lebanon2NALikely Pathogenic, PathogenicHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient B1 in publication
143890.2.2Lebanon2NALikely Pathogenic, PathogenicHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient B2 in publication, sibling of 14...
143890.3.1Lebanon2NALikely Pathogenic, PathogenicHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient C1 in publication
143890.3.2Lebanon2NALikely Pathogenic, PathogenicHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient C2 in publication, sibling of 14...
143890.4.1Lebanon2NALikely Pathogenic, PathogenicHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient D1 in publication
143890.4.2Lebanon2NALikely Pathogenic, PathogenicHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient D2 in publication, sibling of 14...
143890.6.2Lebanon1NALikely Pathogenic, PathogenicHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient F2 in publication, sibling of 14...
143890.7.1Lebanon1NALikely Pathogenic, PathogenicHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient G1 in publication, uncle of 1438...
143890.7.2Lebanon1NALikely Pathogenic, PathogenicHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient G2 in publication
143890.7.3Lebanon1NALikely Pathogenic, PathogenicHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient G3 in publication, sibling of 14...
143890.8Lebanon2NALikely Pathogenic, PathogenicHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient I1 in publication
143890.10.1Lebanon2NALikely Pathogenic, PathogenicHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient K1 in publication
143890.10.2Lebanon2NALikely Pathogenic, PathogenicHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient K2 in publication, sibling of 14...
143890.11Lebanon2NALikely Pathogenic, PathogenicHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient L1 in publication
143890.12Lebanon2NALikely Pathogenic, PathogenicHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient M1 in publication
143890.13Lebanon2NALikely Pathogenic, PathogenicHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient N1 in publication
143890.14Lebanon2NALikely Pathogenic, PathogenicHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient O1 in publication
143890.17Lebanon2NALikely Pathogenic, PathogenicHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient S1 in publication
143890.18.1Lebanon2NALikely Pathogenic, PathogenicHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient U1 in publication
143890.18.2Lebanon2NALikely Pathogenic, PathogenicHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient U2 in publication, sibling of 14...
143890.19Lebanon1NALikely Pathogenic, PathogenicHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient V1 in publication
143890.20Lebanon1NALikely Pathogenic, PathogenicHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient W1 in publication
143890.24Lebanon2PathogenicHypercholesterolemia, Familial, 1Lehrman et al, 1987
143890.25Lebanon2PathogenicHypercholesterolemia, Familial, 1Lehrman et al, 1987
143890.26Lebanon2PathogenicHypercholesterolemia, Familial, 1Lehrman et al, 1987
143890.27Syria2PathogenicHypercholesterolemia, Familial, 1Lehrman et al, 1987
143890.28PalestineNAPathogenicHypercholesterolemia, Familial, 1Oppenheim et al. 1991
143890.29PalestineNAPathogenicHypercholesterolemia, Familial, 1Oppenheim et al. 1991
143890.30PalestineNAPathogenicHypercholesterolemia, Familial, 1Oppenheim et al. 1991
143890.31PalestineNAPathogenicHypercholesterolemia, Familial, 1Oppenheim et al. 1991
143890.32PalestineNAPathogenicHypercholesterolemia, Familial, 1Oppenheim et al. 1991
143890.48Lebanon1PathogenicHypercholesterolemia, Familial, 1Callis et al, 1998
143890.49Lebanon1PathogenicHypercholesterolemia, Familial, 1Callis et al, 1998
143890.50.1Lebanon1PathogenicHypercholesterolemia, Familial, 1Hsia et al, 1996 Proband
143890.50.2Lebanon1PathogenicHypercholesterolemia, Familial, 1Hsia et al, 1996 Son of 143890.50.1
143890.52Lebanon2PathogenicHypercholesterolemia, Familial, 1Fahed et al. 2016
143890.53.1Lebanon2PathogenicHypercholesterolemia, Familial, 1Fahed et al. 2012
143890.53.2Lebanon2PathogenicHypercholesterolemia, Familial, 1Fahed et al. 2012 Sibling of 143890.53.1
143890.53.3Lebanon1PathogenicFahed et al. 2012 Father of 143890.53.1
143890.53.4Lebanon1PathogenicFahed et al. 2012 Sibling of 143890.53.1
143890.54.1Lebanon2PathogenicHypercholesterolemia, Familial, 1Fahed et al. 2012
143890.54.2Lebanon2PathogenicHypercholesterolemia, Familial, 1Fahed et al. 2012 Sibling of 143890.54.1
143890.54.3Lebanon1PathogenicFahed et al. 2012 Father of 143890.54.1
143890.54.4Lebanon1PathogenicFahed et al. 2012 Mother of 143890.54.1
603813.7Lebanon2Uncertain SignificanceHypercholesterolemia, Familial, 4Fahed et al. 2016
603813.9Lebanon1Likely Pathogenic, Uncertain SignificanceHypercholesterolemia, Familial, 4Fahed et al. 2016
143890.G.1Lebanon34PathogenicHypercholesterolemia, Familial, 1Fahed et al, 2017 Group of 17 patients with severe Familia...
143890.G.2Lebanon5PathogenicHypercholesterolemia, Familial, 1Fahed et al, 2017 Group of 5 patients with severe Familial...
143890.G.4.1LebanonPathogenicHypercholesterolemia, Familial, 1Abifadel et al. 2009 Mutations identified in a group of 44 un...
143890.G.5.2Lebanon5PathogenicHypercholesterolemia, Familial, 1Fahed et al. 2016 Group of 5 patients
603813.G.2.3Lebanon2Uncertain SignificanceHypercholesterolemia, Familial, 4Fahed et al. 2016 Group of 2 patients
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