NM_174936.4:c.323T>G

  1. Home
  2. NM_174936.4:c.323T>G

HGVS Expressions

  • NG_009061.1:g.9412T>G
  • NM_174936.4:c.323T>G
  • NP_777596.2:p.Leu108Arg
  • NC_000001.11:g.55043958T>G

Associated Genes

Proprotein Convertase, Subtilisin/Kexin-Type, 9
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

1057519691

Clinvar

375849

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143890.60United Arab Emirates1NAUncertain SignificanceHypercholesterolemia, Autosomal Dominant, 3Rimbert et al. 2021 'Patient 423' in the publication. This p...
Download Table

Contributors

  • Asha Deepthi: 19.05.2022

Edit History

  • Pratibha Nair: 08.02.2023
  • Pratibha Nair: 21.09.2022
  • Asha Deepthi: 19.05.2022
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.