Variant ID: 19-11240278-G-A

NM_000527.4(LDLR):c.2479G>A;(p.Val827Ile)

This variant was identified in 14 publications




Publications:


Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation Sequencing.

Journal Of Cardiovascular Development And Disease
AE Semenova, IV Sergienko, D García-Giustiniani, L Monserrat, AB Popova, DN Nozadze, MV Ezhov
Publication Date: 2020-05-14

Variant appearance in text: LDLR: Val827Ile
PubMed Link: 32423031
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effects of Genetic Variants Associated with Familial Hypercholesterolemia on Low-Density Lipoprotein-Cholesterol Levels and Cardiovascular Outcomes in the Million Veteran Program.

Circulation. Genomic And Precision Medicine
YV Sun, SM Damrauer, Q Hui, TL Assimes, YL Ho, P Natarajan, D Klarin, J Huang, J Lynch, SL DuVall, S Pyarajan, JP Honerlaw, JM Gaziano, K Cho, DJ Rader, CJ O'Donnell, PS Tsao, PWF Wilson
Publication Date: 2018-12

Variant appearance in text: LDLR: Val827Ile; rs137853964
PubMed Link: 31106297
Variant Present in the following documents:
  • Main text
  • nihms-1512622.pdf
  • NIHMS1512622-supplement-002192_-_Supplemental_Material.pdf
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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: 2479G>A; Val827Ile
PubMed Link: 29874871
Variant Present in the following documents:
  • Main text
View BVdb publication page



Differential analysis of mutations in the Jewish population and their implications for diseases.

Genetics Research
Y Einhorn, D Weissglas-Volkov, S Carmi, H Ostrer, E Friedman, N Shomron
Publication Date: 2017-05-15

Variant appearance in text: rs137853964
PubMed Link: 28502252
Variant Present in the following documents:
  • Main text
View BVdb publication page



Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.

Journal Of The American College Of Cardiology
AV Khera, HH Won, GM Peloso, KS Lawson, TM Bartz, X Deng, EM van Leeuwen, P Natarajan, CA Emdin, AG Bick, AC Morrison, JA Brody, N Gupta, A Nomura, T Kessler, S Duga, JC Bis, CM van Duijn, LA Cupples, B Psaty, DJ Rader, J Danesh, H Schunkert, R McPherson, M Farrall, H Watkins, E Lander, JG Wilson, A Correa, E Boerwinkle, PA Merlini, D Ardissino, D Saleheen, S Gabriel, S Kathiresan
Publication Date: 2016-06-07

Variant appearance in text: LDLR: Val827Ile
PubMed Link: 27050191
Variant Present in the following documents:
  • NIHMS853613-supplement-Appendix.docx
View BVdb publication page



The UK10K project identifies rare variants in health and disease.

Nature
, K Walter, JL Min, J Huang, L Crooks, Y Memari, S McCarthy, JR Perry, C Xu, M Futema, D Lawson, V Iotchkova, S Schiffels, AE Hendricks, P Danecek, R Li, J Floyd, LV Wain, I Barroso, SE Humphries, ME Hurles, E Zeggini, JC Barrett, V Plagnol, JB Richards, CM Greenwood, NJ Timpson, R Durbin, N Soranzo
Publication Date: 2015-10-01

Variant appearance in text: LDLR: V827I; rs137853964
PubMed Link: 26367797
Variant Present in the following documents:
  • NIHMS64288-supplement-Tables_S1-S19.xlsx
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: 2479G>A; Val827Ile; rs137853964
PubMed Link: 26332594
Variant Present in the following documents:
  • pone.0135193.s002.xls
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: V827I
PubMed Link: 25647241
Variant Present in the following documents:
  • pgen.1004855.s008.docx
  • pgen.1004855.s013.docx
  • pgen.1004855.s014.docx
  • pgen.1004855.s018.docx
  • pgen.1004855.s019.xlsx
View BVdb publication page



Disease variants in genomes of 44 centenarians.

Molecular Genetics & Genomic Medicine
Y Freudenberg-Hua, J Freudenberg, V Vacic, A Abhyankar, AK Emde, D Ben-Avraham, N Barzilai, D Oschwald, E Christen, J Koppel, B Greenwald, RB Darnell, S Germer, G Atzmon, P Davies
Publication Date: 2014-09

Variant appearance in text: LDLR: V827I; rs137853964
PubMed Link: 25333069
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

Journal Of Medical Genetics
M Futema, V Plagnol, K Li, RA Whittall, HA Neil, M Seed, , S Bertolini, S Calandra, OS Descamps, CA Graham, RA Hegele, F Karpe, R Durst, E Leitersdorf, N Lench, DR Nair, H Soran, FM Van Bockxmeer, , SE Humphries
Publication Date: 2014-08

Variant appearance in text: LDLR: 2479G>A; V827I
PubMed Link: 24987033
Variant Present in the following documents:
  • jmedgenet-2014-102405-s1.pdf
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: 2479G>A; Val827Ile
PubMed Link: 24956927
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: Val827Ile
PubMed Link: 24507775
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Actionable, pathogenic incidental findings in 1,000 participants' exomes.

American Journal Of Human Genetics
MO Dorschner, LM Amendola, EH Turner, PD Robertson, BH Shirts, CJ Gallego, RL Bennett, KL Jones, MJ Tokita, JT Bennett, JH Kim, EA Rosenthal, DS Kim, , HK Tabor, MJ Bamshad, AG Motulsky, CR Scott, CC Pritchard, T Walsh, W Burke, WH Raskind, P Byers, FM Hisama, DA Nickerson, GP Jarvik
Publication Date: 2013-10-03

Variant appearance in text: LDLR: 2479G>A; Val827Ile; rs137853964
PubMed Link: 24055113
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.

Journal Of Medical Genetics
M Futema, V Plagnol, RA Whittall, HA Neil, , SE Humphries,
Publication Date: 2012-10

Variant appearance in text: LDLR: 2479G>A; V827I
PubMed Link: 23054246
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.2734G>A p.Val912Ile missense_variant 17/18 -
ENST00000455727.2 c.1975G>A p.Val659Ile missense_variant 15/16 -
ENST00000535915.1 c.2356G>A p.Val786Ile missense_variant 16/17 -
ENST00000545707.1 c.1945G>A p.Val649Ile missense_variant 15/16 -
ENST00000557933.1 c.2541G>A p.Pro847= synonymous_variant 17/18 -
ENST00000558013.1 c.2479G>A p.Val827Ile missense_variant 17/18 -
ENST00000558518.1 c.2479G>A p.Val827Ile missense_variant 17/18 -
ENST00000560628.1 n.108+1948G>A - intron_variant,non_coding_transcript_variant - 1/1
NM_000527.5 c.2479G>A p.Val827Ile missense_variant 17/18 -
NM_001195798.2 c.2479G>A p.Val827Ile missense_variant 17/18 -
NM_001195799.2 c.2356G>A p.Val786Ile missense_variant 16/17 -
NM_001195800.2 c.1975G>A p.Val659Ile missense_variant 15/16 -
NM_001195803.2 c.1945G>A p.Val649Ile missense_variant 15/16 -