Variant ID: 19-11231112-C-T

NM_000527.4(LDLR):c.2054C>T;(p.Pro685Leu)

This variant was identified in 24 publications




Publications:


Homozygous familial hypercholesterolemia with an update on cholesterol management.

Oxford Medical Case Reports
AJJ Velvet, H Soran, B Clarke, M Motwani, FF Ordoubadi, MJ Daniels
Publication Date: 2020-09

Variant appearance in text: LDLR: Pro685Leu
PubMed Link: 32995028
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Diagnosis of Familial Hypercholesterolemia in Asia.

Frontiers In Genetics
CC Huang, MJ Charng
Publication Date: 2020

Variant appearance in text: LDLR: P685L
PubMed Link: 32793292
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: 2054C>T; Pro685Leu
PubMed Link: 31947532
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction.

Lipids In Health And Disease
C Lee, Y Cui, J Song, S Li, F Zhang, M Wu, L Li, D Hu, H Chen
Publication Date: 2019-04-11

Variant appearance in text: LDLR: 2054C>T; Pro685Leu
PubMed Link: 30971288
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prevalence of familial hypercholesterolemia in patients with premature myocardial infarction.

Clinical Cardiology
Y Cui, S Li, F Zhang, J Song, C Lee, M Wu, H Chen
Publication Date: 2019-03

Variant appearance in text: LDLR: 2054C>T; Pro685Leu
PubMed Link: 30637778
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel compound heterozygous mutations in low density lipoprotein receptor gene causes a severe phenotype in a Chinese hypercholesterolemia family.

Experimental And Therapeutic Medicine
X Cheng, Y Huang, X Qiu, X Cheng, Y Jin, Y Hu, B Yang, J Zhao, Y Lei, F Zheng
Publication Date: 2018-08

Variant appearance in text: LDLR: 2054C>T; Pro685Leu
PubMed Link: 30112042
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: 2054C>T; Pro685Leu
PubMed Link: 29874871
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessment of the 1% of Patients with Consistent < 15% Reduction in Low-Density Lipoprotein Cholesterol: Pooled Analysis of 10 Phase 3 ODYSSEY Alirocumab Trials.

Cardiovascular Drugs And Therapy
HE Bays, RS Rosenson, MT Baccara-Dinet, MJ Louie, D Thompson, GK Hovingh
Publication Date: 2018-04

Variant appearance in text: LDLR: Pro685Leu
PubMed Link: 29627892
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Nature Genetics
X Lu, GM Peloso, DJ Liu, Y Wu, H Zhang, W Zhou, J Li, CS Tang, R Dorajoo, H Li, J Long, X Guo, M Xu, CN Spracklen, Y Chen, X Liu, Y Zhang, CC Khor, J Liu, L Sun, L Wang, YT Gao, Y Hu, K Yu, Y Wang, CYY Cheung, F Wang, J Huang, Q Fan, Q Cai, S Chen, J Shi, X Yang, W Zhao, WH Sheu, SS Cherny, M He, AB Feranil, LS Adair, P Gordon-Larsen, S Du, R Varma, YI Chen, XO Shu, KSL Lam, TY Wong, SK Ganesh, Z Mo, K Hveem, LG Fritsche, JB Nielsen, HF Tse, Y Huo, CY Cheng, YE Chen, W Zheng, ES Tai, W Gao, X Lin, W Huang, G Abecasis, , S Kathiresan, KL Mohlke, T Wu, PC Sham, D Gu, CJ Willer
Publication Date: 2017-12

Variant appearance in text: rs28942084
PubMed Link: 29083407
Variant Present in the following documents:
  • NIHMS909133-supplement-2.xlsx
View BVdb publication page



Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.

Science Translational Medicine
P Natarajan, NB Gold, AG Bick, H McLaughlin, P Kraft, HL Rehm, GM Peloso, JG Wilson, A Correa, JG Seidman, CE Seidman, S Kathiresan, RC Green
Publication Date: 2016-11-09

Variant appearance in text: LDLR: 2054C>T; Pro685Leu; rs28942084
PubMed Link: 27831900
Variant Present in the following documents:
  • Main text
  • NIHMS942134-supplement-supplement_1.pdf
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: Pro685Leu
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: Pro685Leu
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: Pro685Leu
PubMed Link: 26892515
Variant Present in the following documents:
  • Main text
View BVdb publication page



Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Genome Medicine
A Patwardhan, J Harris, N Leng, G Bartha, DM Church, S Luo, C Haudenschild, M Pratt, J Zook, M Salit, J Tirch, M Morra, S Chervitz, M Li, M Clark, S Garcia, G Chandratillake, S Kirk, E Ashley, M Snyder, R Altman, C Bustamante, AJ Butte, J West, R Chen
Publication Date: 2015

Variant appearance in text: rs28942084
PubMed Link: 26269718
Variant Present in the following documents:
  • 13073_2015_197_MOESM8_ESM.xlsx
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: P685L
PubMed Link: 25962062
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: P685L
PubMed Link: 25647241
Variant Present in the following documents:
  • Main text
  • pgen.1004855.s008.docx
  • pgen.1004855.s012.docx
  • pgen.1004855.s013.docx
  • pgen.1004855.s014.docx
  • pgen.1004855.s018.docx
  • pgen.1004855.s019.xlsx
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: 2054C>T; P685L
PubMed Link: 24987033
Variant Present in the following documents:
  • jmedgenet-2014-102405-s1.pdf
View BVdb publication page



Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing.

Journal Of Internal Medicine
C Maglio, RM Mancina, BM Motta, M Stef, C Pirazzi, L Palacios, N Askaryar, J Borén, O Wiklund, S Romeo
Publication Date: 2014-10

Variant appearance in text: LDLR: Pro685Leu
PubMed Link: 24785115
Variant Present in the following documents:
  • joim0276-0396-sd1.doc
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: Pro685Leu
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: rs28942084
PubMed Link: 24336170
Variant Present in the following documents:
  • NIHMS543085-supplement-1.pdf
View BVdb publication page



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: Pro685Leu
PubMed Link: 23669246
Variant Present in the following documents:
  • Main text
  • mmc1.docx
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: 2054C>T; P685L
PubMed Link: 23054246
Variant Present in the following documents:
  • Main text
View BVdb publication page



Distribution and effects of nonsense polymorphisms in human genes.

Plos One
Y Yamaguchi-Kabata, MK Shimada, Y Hayakawa, S Minoshima, R Chakraborty, T Gojobori, T Imanishi
Publication Date: 2008

Variant appearance in text: rs28942084
PubMed Link: 18852891
Variant Present in the following documents:
  • pone.0003393.s001.doc
View BVdb publication page



Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

Journal Of Medical Genetics
SE Humphries, RA Whittall, CS Hubbart, S Maplebeck, JA Cooper, AK Soutar, R Naoumova, GR Thompson, M Seed, PN Durrington, JP Miller, DJ Betteridge, HA Neil,
Publication Date: 2006-12

Variant appearance in text: LDLR: P685L
PubMed Link: 17142622
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.2309C>T p.Pro770Leu missense_variant 14/18 -
ENST00000455727.2 c.1550C>T p.Pro517Leu missense_variant 12/16 -
ENST00000535915.1 c.1931C>T p.Pro644Leu missense_variant 13/17 -
ENST00000545707.1 c.1606+203C>T - intron_variant - 12/15
ENST00000557933.1 c.2054C>T p.Pro685Leu missense_variant 14/18 -
ENST00000558013.1 c.2054C>T p.Pro685Leu missense_variant 14/18 -
ENST00000558518.1 c.2054C>T p.Pro685Leu missense_variant 14/18 -
NM_000527.5 c.2054C>T p.Pro685Leu missense_variant 14/18 -
NM_001195798.2 c.2054C>T p.Pro685Leu missense_variant 14/18 -
NM_001195799.2 c.1931C>T p.Pro644Leu missense_variant 13/17 -
NM_001195800.2 c.1550C>T p.Pro517Leu missense_variant 12/16 -
NM_001195803.2 c.1606+203C>T - intron_variant - 12/15