NM_000527.5:c.1610del

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HGVS Expressions

  • NG_009060.1:g.31737del
  • NM_000527.5:c.1610del
  • NP_000518.1:p.Gly537GlufsTer11
  • NC_000019.10:g.11116117del

Associated Genes

Low Density Lipoprotein Receptor
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

879254959

Clinvar

251934

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143890.62United Arab Emirates1NALikely PathogenicHypercholesterolemia, Familial, 1Rimbert et al. 2021 'Patient 634' 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.