Variant ID: 19-11233940-G-A

NM_000527.4(LDLR):c.2231G>A;(p.Arg744Gln)

This variant was identified in 7 publications




Publications:


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: 2231G>A; Arg744Gln; rs137853963
PubMed Link: 28145427
Variant Present in the following documents:
  • Main text
  • ejhg2016193x1.docx
  • ejhg2016193x2.xlsx
  • ejhg2016193x6.pdf
View BVdb publication page



The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Metabolism: Clinical And Experimental
M Sharifi, M Walus-Miarka, B Idzior-Waluś, MT Malecki, M Sanak, R Whittall, KW Li, M Futema, SE Humphries
Publication Date: 2016-03

Variant appearance in text: LDLR: Arg744Gln
PubMed Link: 26892515
Variant Present in the following documents:
  • Main text
View BVdb publication page



Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

European Journal Of Human Genetics : Ejhg
I Brænne, M Kleinecke, B Reiz, E Graf, T Strom, T Wieland, M Fischer, T Kessler, C Hengstenberg, T Meitinger, J Erdmann, H Schunkert
Publication Date: 2016-02

Variant appearance in text: LDLR: 2231G>A; R744Q
PubMed Link: 26036859
Variant Present in the following documents:
  • Main text
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: R744Q
PubMed Link: 25647241
Variant Present in the following documents:
  • Main text
  • pgen.1004855.s008.docx
  • pgen.1004855.s013.docx
  • pgen.1004855.s014.docx
  • pgen.1004855.s018.docx
  • pgen.1004855.s019.xlsx
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: Arg744Gln
PubMed Link: 24956927
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta-analysis of gene-level tests for rare variant association.

Nature Genetics
DJ Liu, GM Peloso, X Zhan, OL Holmen, M Zawistowski, S Feng, M Nikpay, PL Auer, A Goel, H Zhang, U Peters, M Farrall, M Orho-Melander, C Kooperberg, R McPherson, H Watkins, CJ Willer, K Hveem, O Melander, S Kathiresan, GR Abecasis
Publication Date: 2014-02

Variant appearance in text: rs137853963
PubMed Link: 24336170
Variant Present in the following documents:
  • NIHMS543085-supplement-1.pdf
View BVdb publication page



Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Human Genetics
DN Cooper, M Krawczak, C Polychronakos, C Tyler-Smith, H Kehrer-Sawatzki
Publication Date: 2013-10

Variant appearance in text: LDLR: 2231G>A; Arg744Gln
PubMed Link: 23820649
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.2486G>A p.Arg829Gln missense_variant 15/18 -
ENST00000455727.2 c.1727G>A p.Arg576Gln missense_variant 13/16 -
ENST00000535915.1 c.2108G>A p.Arg703Gln missense_variant 14/17 -
ENST00000545707.1 c.1697G>A p.Arg566Gln missense_variant 13/16 -
ENST00000557933.1 c.2231G>A p.Arg744Gln missense_variant 15/18 -
ENST00000558013.1 c.2231G>A p.Arg744Gln missense_variant 15/18 -
ENST00000558518.1 c.2231G>A p.Arg744Gln missense_variant 15/18 -
NM_000527.5 c.2231G>A p.Arg744Gln missense_variant 15/18 -
NM_001195798.2 c.2231G>A p.Arg744Gln missense_variant 15/18 -
NM_001195799.2 c.2108G>A p.Arg703Gln missense_variant 14/17 -
NM_001195800.2 c.1727G>A p.Arg576Gln missense_variant 13/16 -
NM_001195803.2 c.1697G>A p.Arg566Gln missense_variant 13/16 -