Variant ID: 19-11217352-G-A

NM_000527.4(LDLR):c.806G>A;(p.Gly269Asp)

This variant was identified in 8 publications




Publications:


Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.

International Journal Of Molecular Sciences
A Benito-Vicente, KB Uribe, S Jebari, U Galicia-Garcia, H Ostolaza, C Martin
Publication Date: 2018-06-05

Variant appearance in text: LDLR: 806G>A; Gly269Asp
PubMed Link: 29874871
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: 806G>A; Gly269Asp; rs143992984
PubMed Link: 28145427
Variant Present in the following documents:
  • Main text
  • ejhg2016193x1.docx
  • ejhg2016193x2.xlsx
  • ejhg2016193x6.pdf
View BVdb publication page



Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One
E Olfson, CE Cottrell, NO Davidson, CA Gurnett, JW Heusel, NO Stitziel, LS Chen, S Hartz, R Nagarajan, NL Saccone, LJ Bierut
Publication Date: 2015

Variant appearance in text: LDLR: 806G>A; Gly269Asp; rs143992984
PubMed Link: 26332594
Variant Present in the following documents:
  • pone.0135193.s002.xls
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: G269D
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: G269D
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



Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).

Meta Gene
T Cymbron, P Mendes, A Ramos, M Raposo, N Kazachkova, AM Medeiros, J Bruges-Armas, M Bourbon, M Lima
Publication Date: 2014-12

Variant appearance in text: LDLR: Gly269Asp; rs143992984
PubMed Link: 25606447
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.

American Journal Of Human Genetics
LA Lange, Y Hu, H Zhang, C Xue, EM Schmidt, ZZ Tang, C Bizon, EM Lange, JD Smith, EH Turner, G Jun, HM Kang, G Peloso, P Auer, KP Li, J Flannick, J Zhang, C Fuchsberger, K Gaulton, C Lindgren, A Locke, A Manning, X Sim, MA Rivas, OL Holmen, O Gottesman, Y Lu, D Ruderfer, EA Stahl, Q Duan, Y Li, P Durda, S Jiao, A Isaacs, A Hofman, JC Bis, A Correa, ME Griswold, J Jakobsdottir, AV Smith, PJ Schreiner, MF Feitosa, Q Zhang, JE Huffman, J Crosby, CL Wassel, R Do, N Franceschini, LW Martin, JG Robinson, TL Assimes, DR Crosslin, EA Rosenthal, M Tsai, MJ Rieder, DN Farlow, AR Folsom, T Lumley, ER Fox, CS Carlson, U Peters, RD Jackson, CM van Duijn, AG Uitterlinden, D Levy, JI Rotter, HA Taylor, V Gudnason, DS Siscovick, M Fornage, IB Borecki, C Hayward, I Rudan, YE Chen, EP Bottinger, RJ Loos, P Sætrom, K Hveem, M Boehnke, L Groop, M McCarthy, T Meitinger, CM Ballantyne, SB Gabriel, CJ O'Donnell, WS Post, KE North, AP Reiner, E Boerwinkle, BM Psaty, D Altshuler, S Kathiresan, DY Lin, GP Jarvik, LA Cupples, C Kooperberg, JG Wilson, DA Nickerson, GR Abecasis, SS Rich, RP Tracy, CJ Willer,
Publication Date: 2014-02-06

Variant appearance in text: LDLR: Gly269Asp
PubMed Link: 24507775
Variant Present in the following documents:
  • mmc1.pdf
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: rs143992984
PubMed Link: 24336170
Variant Present in the following documents:
  • NIHMS543085-supplement-1.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.1061G>A p.Gly354Asp missense_variant 5/18 -
ENST00000455727.2 c.314-716G>A - intron_variant - 3/15
ENST00000535915.1 c.683G>A p.Gly228Asp missense_variant 4/17 -
ENST00000545707.1 c.425G>A p.Gly142Asp missense_variant 4/16 -
ENST00000557933.1 c.806G>A p.Gly269Asp missense_variant 5/18 -
ENST00000558013.1 c.806G>A p.Gly269Asp missense_variant 5/18 -
ENST00000558518.1 c.806G>A p.Gly269Asp missense_variant 5/18 -
ENST00000558528.1 n.321G>A - non_coding_transcript_exon_variant 1/2 -
ENST00000560467.1 c.407G>A p.Gly136Asp missense_variant 2/6 -
NM_000527.5 c.806G>A p.Gly269Asp missense_variant 5/18 -
NM_001195798.2 c.806G>A p.Gly269Asp missense_variant 5/18 -
NM_001195799.2 c.683G>A p.Gly228Asp missense_variant 4/17 -
NM_001195800.2 c.314-716G>A - intron_variant - 3/15
NM_001195803.2 c.425G>A p.Gly142Asp missense_variant 4/16 -