NM_000527.5:c.1555C>T

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HGVS Expressions

  • NG_009060.1:g.29351C>T
  • NM_000527.5:c.1555C>T
  • NP_000518.1:p.Pro519Ser
  • NC_000019.10:g.11113731C>T

Associated Genes

Low Density Lipoprotein Receptor
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

875989923

Clinvar

251896

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143890.63United Arab Emirates1NALikely PathogenicHypercholesterolemia, Familial, 1Rimbert et al. 2021 'Patient 689' in the publication
143890.66United Arab Emirates1NALikely PathogenicHypercholesterolemia, Familial, 1Rimbert et al. 2021 'Patient 808' in the publication
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Contributors

  • Asha Deepthi: 18.05.2022

Edit History

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