NM_000527.5:c.1429G>A

  1. Home
  2. NM_000527.5:c.1429G>A

HGVS Expressions

  • NG_009060.1:g.29225G>A
  • NM_000527.5:c.1429G>A
  • NP_000518.1:p.Asp477Asn
  • NC_000019.10:g.11113605G>A

Associated Genes

Low Density Lipoprotein Receptor
Back to search Result
Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

780316072

Clinvar

251838

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143890.57United Arab Emirates1NALikely PathogenicHypercholesterolemia, Familial, 1Rimbert et al. 2021 'Patient 218' in the publication
143890.60United Arab Emirates1NALikely PathogenicHypercholesterolemia, Familial, 1Rimbert et al. 2021 'Patient 423' in the publication. This p...
Download Table

Contributors

  • Asha Deepthi: 17.05.2022

Edit History

  • Pratibha Nair: 08.02.2023
  • Asha Deepthi: 21.09.2022
  • Pratibha Nair: 21.09.2022
  • Asha Deepthi: 17.05.2022
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.