NM_000527.5:c.505_511del

  1. Home
  2. NM_000527.5:c.505_511del

HGVS Expressions

  • NG_009060.1:g.21031_21037del
  • NM_000527.5:c.505_511del
  • NP_000518.1:p.Asn169ProfsTer35
  • NC_000019.10:g.11105411_11105417del

Associated Genes

Low Density Lipoprotein Receptor
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

dbSNP

1568594903

Clinvar

629644

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143890.64United Arab Emirates1NALikely PathogenicHypercholesterolemia, Familial, 1Rimbert et al. 2021 'Patient 720' in the publication
Download Table

Contributors

  • Asha Deepthi: 18.05.2022

Edit History

  • Pratibha Nair: 05.12.2022
  • Asha Deepthi: 18.05.2022
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.