Variant ID: 19-11227604-G-A

NM_000527.4(LDLR):c.1775G>A;(p.Gly592Glu)

This variant was identified in 23 publications




Publications:


Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies.

Frontiers In Genetics
V Vasilyev, F Zakharova, T Bogoslovskay, M Mandelshtam
Publication Date: 2020

Variant appearance in text: LDLR: 1775G>A
PubMed Link: 33391333
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

Biomedical Reports
VV Miroshnikova, OV Romanova, ON Ivanova, MA Fedyakov, AA Panteleeva, YA Barbitoff, MV Muzalevskaya, SA Urazgildeeva, VS Gurevich, SP Urazov, SG Scherbak, AM Sarana, NA Semenova, IV Anisimova, DM Guseva, SN Pchelina, AS Glotov, EY Zakharova, OS Glotov
Publication Date: 2021-01

Variant appearance in text: LDLR: 1775G>A; Gly592Glu; rs137929307
PubMed Link: 33269076
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteostasis Regulation in the Endoplasmic Reticulum: An Emerging Theme in the Molecular Pathology and Therapeutic Management of Familial Hypercholesterolemia.

Frontiers In Genetics
D Oommen, P Kizhakkedath, AA Jawabri, DS Varghese, BR Ali
Publication Date: 2020

Variant appearance in text: LDLR: 1775G>A; Gly592Glu; rs137929307
PubMed Link: 33173538
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of Familial Hypercholesterolemia: New Insights.

Frontiers In Genetics
M Vrablik, L Tichý, T Freiberger, V Blaha, M Satny, JA Hubacek
Publication Date: 2020

Variant appearance in text: LDLR: 1775G>A; Gly592Glu
PubMed Link: 33133164
Variant Present in the following documents:
  • Main text
View BVdb publication page



SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo.

Clinics (Sao Paulo, Brazil)
AM Lerario, DR Mohan, LR Montenegro, MFA Funari, MY Nishi, AM Narcizo, AFF Benedetti, SM Oba-Shinjo, AJ Vitorino, RASXD Santos, AAL Jorge, LF Onuchic, SKN Marie, BB Mendonca
Publication Date: 2020

Variant appearance in text: LDLR: Gly592Glu; rs137929307
PubMed Link: 32785571
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 1775G>A; Gly592Glu
PubMed Link: 32423031
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants.

Journal Of The American Heart Association
TD Pottinger, MJ Puckelwartz, LL Pesce, A Robinson, S Kearns, JA Pacheco, LJ Rasmussen-Torvik, ME Smith, R Chisholm, EM McNally
Publication Date: 2020-02-04

Variant appearance in text: LDLR: Gly592Glu
PubMed Link: 32009526
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular Characterization of Familial Hypercholesterolemia in a North American Cohort.

Journal Of The Endocrine Society
A Garg, S Fazio, PB Duell, A Baass, C Udata, T Joh, T Riel, M Sirota, D Dettling, H Liang, PD Garzone, B Gumbiner, H Wan
Publication Date: 2020-01-01

Variant appearance in text: LDLR: G592E
PubMed Link: 31993549
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 1775G>A; Gly592Glu
PubMed Link: 31947532
Variant Present in the following documents:
  • Main text
View BVdb publication page



Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis.

Molecular Genetics & Genomic Medicine
KHY Wong, M Levy-Sakin, W Ma, N Gonzaludo, ACY Mak, D Vaka, A Poon, C Chu, R Lao, M Balamir, Z Grenville, N Wong, JP Kane, PY Kwok, MJ Malloy, CR Pullinger
Publication Date: 2019-12

Variant appearance in text: LDLR: G592E; rs137929307
PubMed Link: 31617323
Variant Present in the following documents:
  • Main text
  • MGG3-7-e1007.pdf
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
A Capalbo, RA Valero, J Jimenez-Almazan, PM Pardo, M Fabiani, D Jiménez, C Simon, JM Rodriguez
Publication Date: 2019-10

Variant appearance in text: rs137929307
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s003.xlsx
View BVdb publication page



Bending of DNA duplexes with mutation motifs.

Dna Research : An International Journal For Rapid Publication Of Reports On Genes And Genomes
M Růžička, P Souček, P Kulhánek, L Radová, L Fajkusová, K Réblová
Publication Date: 2019-08-01

Variant appearance in text: LDLR: 1775G>A; Gly592Glu
PubMed Link: 31230075
Variant Present in the following documents:
  • Main text
  • dsz013.pdf
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: 1775G>A; Gly592Glu; rs137929307
PubMed Link: 31106297
Variant Present in the following documents:
  • NIHMS1512622-supplement-002192_-_Supplemental_Material.pdf
View BVdb publication page



Aortic valve calcium score in hypercholesterolemic patients with and without low-density lipoprotein receptor gene mutation.

Plos One
R Gałąska, D Kulawiak-Gałąska, M Chmara, K Chlebus, M Studniarek, M Fijałkowski, B Wasąg, A Rynkiewicz, M Gruchała
Publication Date: 2018

Variant appearance in text: LDLR: G592E
PubMed Link: 30592719
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 1775G>A; Gly592Glu
PubMed Link: 29874871
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Proprotein Convertase Subtilisin/Kexin Type 9-resistant R410S Low Density Lipoprotein Receptor Mutation: A NOVEL MECHANISM CAUSING FAMILIAL HYPERCHOLESTEROLEMIA.

The Journal Of Biological Chemistry
D Susan-Resiga, E Girard, RS Kiss, R Essalmani, J Hamelin, MC Asselin, Z Awan, C Butkinaree, A Fleury, A Soldera, YL Dory, A Baass, NG Seidah
Publication Date: 2017-02-03

Variant appearance in text: LDLR: G592E
PubMed Link: 27998977
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: Gly592Glu
PubMed Link: 27050191
Variant Present in the following documents:
  • NIHMS853613-supplement-Appendix.docx
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: Gly592Glu
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: 1775G>A; G592E
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: G592E
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



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: Gly592Glu
PubMed Link: 24507775
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations.

Journal Of Lipid Research
M Romano, MD Di Taranto, P Mirabelli, MN D'Agostino, A Iannuzzi, G Marotta, M Gentile, M Raia, R Di Noto, L Del Vecchio, P Rubba, G Fortunato
Publication Date: 2011-11

Variant appearance in text: LDLR: 1775G>A; Gly592Glu
PubMed Link: 21865347
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia.

Bmc Medical Genetics
R Goldmann, L Tichý, T Freiberger, P Zapletalová, O Letocha, V Soska, J Fajkus, L Fajkusová
Publication Date: 2010-07-27

Variant appearance in text: LDLR: Gly592Glu
PubMed Link: 20663204
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.2030G>A p.Gly677Glu missense_variant 12/18 -
ENST00000455727.2 c.1271G>A p.Gly424Glu missense_variant 10/16 -
ENST00000535915.1 c.1652G>A p.Gly551Glu missense_variant 11/17 -
ENST00000545707.1 c.1394G>A p.Gly465Glu missense_variant 11/16 -
ENST00000557933.1 c.1775G>A p.Gly592Glu missense_variant 12/18 -
ENST00000558013.1 c.1775G>A p.Gly592Glu missense_variant 12/18 -
ENST00000558518.1 c.1775G>A p.Gly592Glu missense_variant 12/18 -
ENST00000559340.1 c.426+716G>A - intron_variant,NMD_transcript_variant - 3/4
NM_000527.5 c.1775G>A p.Gly592Glu missense_variant 12/18 -
NM_001195798.2 c.1775G>A p.Gly592Glu missense_variant 12/18 -
NM_001195799.2 c.1652G>A p.Gly551Glu missense_variant 11/17 -
NM_001195800.2 c.1271G>A p.Gly424Glu missense_variant 10/16 -
NM_001195803.2 c.1394G>A p.Gly465Glu missense_variant 11/16 -