NM_000527.5:c.1294C>G

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HGVS Expressions

  • NG_009060.1:g.29005C>G
  • NM_000527.5:c.1294C>G
  • NP_000518.1:p.Leu432Val
  • NC_000019.10:g.11113385C>G

Associated Genes

Low Density Lipoprotein Receptor
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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

730882100

Clinvar

183111

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143890.61United Arab Emirates1NALikely PathogenicHypercholesterolemia, Familial, 1Rimbert et al. 2021 'Patient 622' in the publication
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Contributors

  • Asha Deepthi: 17.05.2022

Edit History

  • Asha Deepthi: 17.05.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.