NM_000527.4:c.1352T>C

  1. Home
  2. NM_000527.4:c.1352T>C

HGVS Expressions

  • NG_009060.1:g.29063T>C
  • NM_000527.4:c.1352T>C
  • NP_000518.1:p.Ile451Thr

Associated Genes

Low Density Lipoprotein Receptor
Back to search Result
Genomic Location

chr19:11113443

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

879254874

Clinvar

251801

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143890.6.1Lebanon2NALikely PathogenicHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient F1 in publication
143890.6.2Lebanon2NALikely PathogenicHypercholesterolemia, Familial, 1Fahed et al., 2011 Patient F2 in publication, sibling of 14...
143890.51Lebanon2Hypercholesterolemia, Familial, 1Fahed et al, 2017
Download Table

Contributors

  • Asha Deepthi: 20.04.2020

Edit History

  • Sayeeda Hana: 10.05.2020
  • Asha Deepthi: 20.04.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.