NM_000527.4:c.2447_2450dupAGAA

  1. Home
  2. NM_000527.4:c.2447_2450dupAGAA

HGVS Expressions

  • NG_009060.1:g.45190_45193dupAGAA
  • NM_000527.4:c.2447_2450dupAGAA
  • NP_000518.1:p.Asn817Lysfs

Associated Genes

Low Density Lipoprotein Receptor
Back to search Result
Genomic Location

chr19:11129570-11129573

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

387906302

Clinvar

3705

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143890.21.1Saudi Arabia2PathogenicHypercholesterolemia, Familial, 1Lehrman et al. 1985
143890.21.2Saudi Arabia2PathogenicHypercholesterolemia, Familial, 1Lehrman et al. 1985 Sister of 143890.21.1
143890.21.3Saudi Arabia1PathogenicHypercholesterolemia, Familial, 1Lehrman et al. 1985 Father of 143890.21.1
143890.21.4Saudi Arabia1PathogenicHypercholesterolemia, Familial, 1Lehrman et al. 1985 Mother of 143890.21.1
Download Table

Contributors

  • Sayeeda Hana: 06.05.2020

Edit History

  • Sayeeda Hana: 04.10.2020
  • Sayeeda Hana: 06.05.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.