NM_174936.4:c.45_47GCT[10]

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  2. NM_174936.4:c.45_47GCT[10]

HGVS Expressions

  • NG_009061.1:g.5336_5338GCT[10]
  • NM_174936.4:c.45_47GCT[10]
  • NP_777596.2:p.Leu21_Leu23dup
  • NC_000001.11:g.55039882_55039884GCT[10]

Associated Genes

Proprotein Convertase, Subtilisin/Kexin-Type, 9
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Clinvar Clinical Significance

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Duplication

dbSNP

35574083

Clinvar

597379

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143890.G.4.1LebanonUncertain SignificanceHypercholesterolemia, Familial, 1Abifadel et al. 2009 Mutations identified in a group of 44 un...
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Contributors

  • Asha Deepthi: 24.01.2021

Edit History

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