NM_000527.4:c.1171G>A

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HGVS Expressions

  • NG_009060.1:g.27244G>A
  • NM_000527.4:c.1171G>A
  • NP_000518.1:p.Ala391Thr
  • NC_000019.10:g.11111624G>A

Associated Genes

Low Density Lipoprotein Receptor
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Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Benign, Likely Benign, Likely Pathogenic, Uncertain Significance

Variant Type

Substitution

dbSNP

11669576

Clinvar

183138

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143890.5Lebanon1NABenign, Likely BenignHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient E1 in publication
603813.8Lebanon1Likely Pathogenic, Uncertain SignificanceHypercholesterolemia, Familial, 4Fahed et al. 2016
603813.9Lebanon1Likely Pathogenic, Uncertain SignificanceHypercholesterolemia, Familial, 4Fahed et al. 2016
143890.G.5.1Lebanon3Likely PathogenicHypercholesterolemia, Familial, 1Fahed et al. 2016 Group of 3 patients
603813.G.2.4Lebanon4Uncertain SignificanceHypercholesterolemia, Familial, 4Fahed et al. 2016 Group of 4 patients
606945.GUnited Arab Emirates20.025BenignMazrooei & Mohamed 2010 11 benign polymorphisms identified in a ...
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Contributors

  • Asha Deepthi: 20.04.2020

Edit History

  • Pratibha Nair: 29.11.2022
  • Pratibha Nair: 23.08.2022
  • Sami Bizzari: 10.03.2022
  • Asha Deepthi: 03.02.2021
  • Asha Deepthi: 20.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.