Variant ID: 19-11224013-C-T

NM_000527.4(LDLR):c.1246C>T;(p.Arg416Trp)

This variant was identified in 22 publications




Publications:


The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Frontiers In Genetics
A Kamar, A Khalil, G Nemer
Publication Date: 2020

Variant appearance in text: LDLR: 1246C>T; Arg416Trp
PubMed Link: 33519890
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 1246C>T; Arg416Trp
PubMed Link: 33391333
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: 1246C>T; Arg416Trp
PubMed Link: 33133164
Variant Present in the following documents:
  • Main text
View BVdb publication page



Low Density Lipoprotein Receptor Variants in the Beta-Propeller Subdomain and Their Functional Impact.

Frontiers In Genetics
L Dušková, L Nohelová, T Loja, J Fialová, P Zapletalová, K Réblová, L Tichý, T Freiberger, L Fajkusová
Publication Date: 2020

Variant appearance in text: LDLR: 1246C>T; Arg416Trp
PubMed Link: 32695144
Variant Present in the following documents:
  • Main text
  • fgene-11-00691.pdf
View BVdb publication page



A systematic review of LDLR, PCSK9, and APOB variants in Asia.

Atherosclerosis
N Mahdieh, K Heshmatzad, B Rabbani
Publication Date: 2020-07

Variant appearance in text: LDLR: 1246C>T; Arg416Trp
PubMed Link: 32629184
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: 1246C>T; Arg416Trp
PubMed Link: 32423031
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.

Scientific Reports
U Galicia-Garcia, A Benito-Vicente, KB Uribe, S Jebari, A Larrea-Sebal, R Alonso-Estrada, J Aguilo-Arce, H Ostolaza, L Palacios, C Martin
Publication Date: 2020-02-03

Variant appearance in text: LDLR: Arg416Trp
PubMed Link: 32015373
Variant Present in the following documents:
  • Supplemental file
  • Main text
  • 41598_2020_Article_58734.pdf
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: 1246C>T; Arg416Trp
PubMed Link: 29874871
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Rare Missense Mutation and a Polymorphism with High Frequency in LDLR Gene among Iranian Patients with Familial Hypercholesterolemia.

Advanced Biomedical Research
M Tajamolian, P Kolahdouz, P Nikpour, SK Forouzannia, MH Sheikhha, EF Yazd
Publication Date: 2018

Variant appearance in text: LDLR: 1246C>T; R416W
PubMed Link: 29531935
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular genetics of familial hypercholesterolemia in Israel-revisited.

Atherosclerosis
R Durst, UK Ibe, S Shpitzen, D Schurr, O Eliav, M Futema, R Whittall, A Szalat, V Meiner, H Knobler, D Gavish, Y Henkin, A Ellis, A Rubinstein, D Harats, R Bitzur, B Hershkovitz, SE Humphries, E Leitersdorf
Publication Date: 2017-02

Variant appearance in text: LDLR: 1246C>T; R416W
PubMed Link: 28104544
Variant Present in the following documents:
  • Supplemental file
  • 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: R416W
PubMed Link: 27998977
Variant Present in the following documents:
  • Main text
View BVdb publication page



The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia.

Scientific Reports
L Jiang, WF Wu, LY Sun, PP Chen, W Wang, A Benito-Vicente, F Zhang, XD Pan, W Cui, SW Yang, YJ Zhou, C Martin, LY Wang
Publication Date: 2016-11-10

Variant appearance in text: LDLR: Arg416Trp
PubMed Link: 27830735
Variant Present in the following documents:
  • Main text
  • srep36823-s1.doc
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: Arg416Trp
PubMed Link: 27050191
Variant Present in the following documents:
  • NIHMS853613-supplement-Appendix.docx
View BVdb publication page



A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease.

Acta Neuropathologica
J Verheijen, T Van den Bossche, J van der Zee, S Engelborghs, R Sanchez-Valle, A Lladó, C Graff, H Thonberg, P Pastor, S Ortega-Cubero, MA Pastor, L Benussi, R Ghidoni, G Binetti, J Clarimon, A Lleó, J Fortea, A de Mendonça, M Martins, O Grau-Rivera, E Gelpi, K Bettens, L Mateiu, L Dillen, P Cras, PP De Deyn, C Van Broeckhoven, K Sleegers
Publication Date: 2016-08

Variant appearance in text: LDLR: 1246C>T; Arg416*
PubMed Link: 27026413
Variant Present in the following documents:
  • Main text
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: Arg416Trp
PubMed Link: 26892515
Variant Present in the following documents:
  • Main text
View BVdb publication page



The distribution and characteristics of LDL receptor mutations in China: A systematic review.

Scientific Reports
L Jiang, LY Sun, YF Dai, SW Yang, F Zhang, LY Wang
Publication Date: 2015-11-26

Variant appearance in text: LDLR: 1246C>T
PubMed Link: 26608663
Variant Present in the following documents:
  • srep17272-s1.doc
View BVdb publication page



Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.

Plos One
SM Han, B Hwang, TG Park, DI Kim, MY Rhee, BK Lee, YK Ahn, BR Cho, J Woo, SH Hur, JO Jeong, S Park, Y Jang, MG Lee, D Bang, JH Lee, SH Lee
Publication Date: 2015

Variant appearance in text: LDLR: R416W
PubMed Link: 25962062
Variant Present in the following documents:
  • Main text
View BVdb publication page



The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
A Benito-Vicente, AC Alves, A Etxebarria, AM Medeiros, C Martin, M Bourbon
Publication Date: 2015-12

Variant appearance in text: LDLR: Arg416Trp
PubMed Link: 25741862
Variant Present in the following documents:
  • Supplemental file
  • 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: R416W
PubMed Link: 25647241
Variant Present in the following documents:
  • pgen.1004855.s018.docx
  • pgen.1004855.s014.docx
  • pgen.1004855.s008.docx
  • pgen.1004855.s013.docx
  • pgen.1004855.s019.xlsx
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Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.

Atherosclerosis
M Futema, RA Whittall, A Kiley, LK Steel, JA Cooper, E Badmus, SE Leigh, F Karpe, HA Neil, , SE Humphries
Publication Date: 2013-07

Variant appearance in text: LDLR: 1246C>T; Arg416Trp
PubMed Link: 23669246
Variant Present in the following documents:
  • mmc1.docx
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: Arg416Trp
PubMed Link: 20663204
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular characterization of familial hypercholesterolemia in German and Greek patients.

Human Mutation
GV Dedoussis, J Genschel, B Bochow, C Pitsavos, J Skoumas, M Prassa, S Lkhagvasuren, P Toutouzas, A Vogt, U Kassner, HP Thomas, H Schmidt
Publication Date: 2004-03

Variant appearance in text: LDLR: 1246C>T; R416W
PubMed Link: 14974088
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.1501C>T p.Arg501Trp missense_variant 9/18 -
ENST00000455727.2 c.742C>T p.Arg248Trp missense_variant 7/16 -
ENST00000535915.1 c.1123C>T p.Arg375Trp missense_variant 8/17 -
ENST00000545707.1 c.865C>T p.Arg289Trp missense_variant 8/16 -
ENST00000557933.1 c.1246C>T p.Arg416Trp missense_variant 9/18 -
ENST00000558013.1 c.1246C>T p.Arg416Trp missense_variant 9/18 -
ENST00000558518.1 c.1246C>T p.Arg416Trp missense_variant 9/18 -
ENST00000560173.1 n.245C>T - non_coding_transcript_exon_variant 3/3 -
ENST00000560467.1 c.727C>T p.Arg243Trp missense_variant 5/6 -
NM_000527.5 c.1246C>T p.Arg416Trp missense_variant 9/18 -
NM_001195798.2 c.1246C>T p.Arg416Trp missense_variant 9/18 -
NM_001195799.2 c.1123C>T p.Arg375Trp missense_variant 8/17 -
NM_001195800.2 c.742C>T p.Arg248Trp missense_variant 7/16 -
NM_001195803.2 c.865C>T p.Arg289Trp missense_variant 8/16 -