NM_000527.5:c.2476C>T

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  2. NM_000527.5:c.2476C>T

HGVS Expressions

  • NG_009060.1:g.45219C>T
  • NM_000527.5:c.2476C>T
  • NP_000518.1:p.Pro826Ser
  • NC_000019.10:g.11129599C>T

Associated Genes

Low Density Lipoprotein Receptor
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

879255217

Clinvar

440699

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143890.G.4.2LebanonPathogenicHypercholesterolemia, Familial, 1Abifadel et al. 2009 Mutations identified in 6 probands who d...
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Contributors

  • Asha Deepthi: 26.11.2020

Edit History

  • Asha Deepthi: 24.01.2021
  • Asha Deepthi: 26.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.