NM_000527.4:c.980dup

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HGVS Expressions

  • NG_009060.1:g.26311dup
  • NM_000527.4:c.980dup
  • NP_000518.1:p.His327fs

Associated Genes

Low Density Lipoprotein Receptor
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Genomic Location

chr19:11110691

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

879254748

Clinvar

251584

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143890.9Lebanon2NAPathogenicHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient J1 in publication
143890.15Lebanon2NAPathogenicHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient P1 in publication
143890.16Lebanon2NAPathogenicHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient Q1 in publication
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Contributors

  • Asha Deepthi: 20.04.2020

Edit History

  • Sayeeda Hana: 04.10.2020
  • Asha Deepthi: 20.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.