NM_000527.5:c.2177C>T

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  2. NM_000527.5:c.2177C>T

HGVS Expressions

  • NG_009060.1:g.38830C>T
  • NM_000527.5:c.2177C>T
  • NP_000518.1:p.Thr726Ile
  • NC_000019.10:g.11123210C>T

Associated Genes

Low Density Lipoprotein Receptor
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Clinvar Clinical Significance

Benign, Likely Benign, Uncertain Significance

CTGA Clinical Significance

Benign, Likely Benign

Variant Type

Substitution

dbSNP

45508991

Clinvar

36461

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143890.19Lebanon1NABenign, Likely BenignHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient V1 in publication
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Contributors

  • Asha Deepthi: 20.04.2020

Edit History

  • Pratibha Nair: 22.11.2022
  • Asha Deepthi: 20.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.