Variant ID: 19-11217264-G-A

NM_000527.4(LDLR):c.718G>A;(p.Glu240Lys)

This variant was identified in 5 publications




Publications:


A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia.

Journal Of Clinical Medicine
MD Di Taranto, C Giacobbe, A Buonaiuto, I Calcaterra, D Palma, G Maione, G Iannuzzo, MND Di Minno, P Rubba, G Fortunato
Publication Date: 2020-01-14

Variant appearance in text: LDLR: 718G>A; Glu240Lys
PubMed Link: 31947532
Variant Present in the following documents:
  • Main text
View BVdb publication page



Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.

Molecular Genetics & Genomic Medicine
P Nair, S Sabbagh, H Mansour, A Fawaz, G Hmaimess, P Noun, R Dagher, H Megarbane, S Hana, S Alame, M Lamaa, D Hasbini, R Farah, M Rajab, S Stora, O El-Tourjuman, P Abou Jaoude, G Chalouhi, R Sayad, AC Gillart, M Al-Ali, V Delague, S El-Hayek, A Mégarbané
Publication Date: 2018-11

Variant appearance in text: LDLR: 718G>A; Glu240Lys
PubMed Link: 30293248
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.

European Journal Of Human Genetics : Ejhg
MS Safarova, EW Klee, LM Baudhuin, EM Winkler, ML Kluge, SJ Bielinski, JE Olson, IJ Kullo
Publication Date: 2017-04

Variant appearance in text: LDLR: Glu240Lys
PubMed Link: 28145427
Variant Present in the following documents:
  • ejhg2016193x2.xlsx
View BVdb publication page



Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

Plos Genetics
AS Thormaehlen, C Schuberth, HH Won, P Blattmann, B Joggerst-Thomalla, S Theiss, R Asselta, S Duga, PA Merlini, D Ardissino, ES Lander, S Gabriel, DJ Rader, GM Peloso, R Pepperkok, S Kathiresan, H Runz
Publication Date: 2015-02

Variant appearance in text: LDLR: E240K
PubMed Link: 25647241
Variant Present in the following documents:
  • pgen.1004855.s013.docx
View BVdb publication page



Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.

Bmc Medical Genetics
PJ Norsworthy, J Vandrovcova, ER Thomas, A Campbell, SM Kerr, J Biggs, L Game, AK Soutar, BH Smith, AF Dominiczak, DJ Porteous, AD Morris, G Scotland, TJ Aitman
Publication Date: 2014-06-23

Variant appearance in text: LDLR: 718G>A; Glu240Lys
PubMed Link: 24956927
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.973G>A p.Glu325Lys missense_variant 5/18 -
ENST00000455727.2 c.314-804G>A - intron_variant - 3/15
ENST00000535915.1 c.595G>A p.Glu199Lys missense_variant 4/17 -
ENST00000545707.1 c.337G>A p.Glu113Lys missense_variant 4/16 -
ENST00000557933.1 c.718G>A p.Glu240Lys missense_variant 5/18 -
ENST00000558013.1 c.718G>A p.Glu240Lys missense_variant 5/18 -
ENST00000558518.1 c.718G>A p.Glu240Lys missense_variant 5/18 -
ENST00000558528.1 n.233G>A - non_coding_transcript_exon_variant 1/2 -
ENST00000560467.1 c.319G>A p.Glu107Lys missense_variant 2/6 -
NM_000527.5 c.718G>A p.Glu240Lys missense_variant 5/18 -
NM_001195798.2 c.718G>A p.Glu240Lys missense_variant 5/18 -
NM_001195799.2 c.595G>A p.Glu199Lys missense_variant 4/17 -
NM_001195800.2 c.314-804G>A - intron_variant - 3/15
NM_001195803.2 c.337G>A p.Glu113Lys missense_variant 4/16 -