NM_000527.5:c.378C>A

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HGVS Expressions

  • NG_009060.1:g.20904C>A
  • NM_000527.5:c.378C>A
  • NP_000518.1:p.Phe126Leu
  • NC_000019.10:g.11105284C>A

Associated Genes

Low Density Lipoprotein Receptor
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

762139262

Clinvar

1321222

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143890.68United Arab Emirates1NALikely PathogenicHypercholesterolemia, Familial, 1Rimbert et al. 2021 'Patient 851' in the publication
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Contributors

  • Asha Deepthi: 18.05.2022

Edit History

  • Pratibha Nair: 10.11.2022
  • Asha Deepthi: 18.05.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.