NM_000527.4:c.2439G>A

  1. Home
  2. NM_000527.4:c.2439G>A

HGVS Expressions

  • NG_009060.1:g.45182G>A
  • NM_000527.4:c.2439G>A
  • NP_000518.1:p.Trp813Ter

Associated Genes

Low Density Lipoprotein Receptor
Back to search Result
Genomic Location

chr19:11129562

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121908032

Clinvar

3703

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143890.47Bahrain2PathogenicHypercholesterolemia, Familial, 1Lehrman et al. 1985
Download Table

Contributors

  • Sayeeda Hana: 07.05.2020

Edit History

  • Sayeeda Hana: 07.05.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.