NM_015627.2:c.406C>T

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  2. NM_015627.2:c.406C>T

HGVS Expressions

  • NG_008932.1:g.18630C>T
  • NM_015627.2:c.406C>T
  • NP_056442.2:p.Gln136Ter

Associated Genes

Low Density Lipoprotein Receptor Adaptor Protein 1
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Genomic Location

chr1:25557214

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

Variant Type

Substitution

dbSNP

121908325

Clinvar

4775

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
603813.1.1Lebanon2PathogenicHypercholesterolemia, Familial, 4Garcia et al, 2001
603813.1.2Lebanon2PathogenicHypercholesterolemia, Familial, 4Garcia et al, 2001 Sibling of 603813.1.1
603813.1.3Lebanon2PathogenicHypercholesterolemia, Familial, 4Garcia et al, 2001 Sibling of 603813.1.1
603813.1.4Lebanon2PathogenicHypercholesterolemia, Familial, 4Garcia et al, 2001 Sibling of 603813.1.1
603813.3.1Lebanon2PathogenicHypercholesterolemia, Familial, 4Eden et al, 2002 Turkish patient with Lebanese antecedent...
603813.3.2Lebanon2PathogenicHypercholesterolemia, Familial, 4Eden et al, 2002 Sister of 603813.3.1
603813.3.3Lebanon2PathogenicHypercholesterolemia, Familial, 4Eden et al, 2002 Cousin of of 603813.3.1
603813.3.4Lebanon1PathogenicEden et al, 2002 Mother of of 603813.3.1
603813.3.5Lebanon1PathogenicEden et al, 2002 Father of of 603813.3.1
603813.6Lebanon1PathogenicHypercholesterolemia, Familial, 4Fahed et al, 2017
603813.7Lebanon1Uncertain SignificanceHypercholesterolemia, Familial, 4Fahed et al. 2016
603813.8Lebanon2PathogenicHypercholesterolemia, Familial, 4Fahed et al. 2016
603813.9Lebanon1Uncertain SignificanceHypercholesterolemia, Familial, 4Fahed et al. 2016
603813.G.1Lebanon16PathogenicHypercholesterolemia, Familial, 4Fahed et al, 2017 Group of 8 patients with severe Familial...
603813.G.2.1Lebanon11Likely Pathogenic, Uncertain SignificanceHypercholesterolemia, Familial, 4Fahed et al. 2016 Group of 11 patients
603813.G.2.2Lebanon18PathogenicHypercholesterolemia, Familial, 4Fahed et al. 2016 Group of 9 patients
603813.G.2.3Lebanon2Uncertain SignificanceHypercholesterolemia, Familial, 4Fahed et al. 2016 Group of 2 patients
603813.G.2.4Lebanon4Uncertain SignificanceHypercholesterolemia, Familial, 4Fahed et al. 2016 Group of 4 patients
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Contributors

  • Pratibha Nair: 24.07.2019

Edit History

  • Asha Deepthi: 03.02.2021
  • Sayeeda Hana: 10.05.2020
  • Pratibha Nair: 24.07.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.