LDLR c.499_500delinsCT ;(p.C167L)

Variant ID: 19-11216081-TG-CT

NM_000527.4(LDLR):c.499_500delinsCT;(p.C167L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genetic and Clinical Characteristics of Patients With Homozygous and Compound Heterozygous Familial Hypercholesterolemia From Three Different Populations: Case Series.

Frontiers In Genetics
Marusic, Tatiana T; Sustar, Ursa U; Sadiq, Fouzia F; Kotori, Vjosa V; Mlinaric, Matej M; Kovac, Jernej J; Shafi, Saeed S; Khan, Iqbal I; Cevc, Matija M; Trebusak Podkrajsek, Katarina K; Battelino, Tadej T; Groselj, Urh U
Publication Date: 2020

Variant appearance in text: LDLR: Cys167Leu
PubMed Link: 33093846
Variant Present in the following documents:
  • Main text
  • fgene-11-572176.pdf
View BVdb publication page