Variant ID: 19-11216264-G-T

NM_000527.4(LDLR):c.682G>T;(p.Glu228*)

This variant was identified in 13 publications




Publications:


GENetic characteristics and REsponse to lipid-lowering therapy in familial hypercholesterolemia: GENRE-FH study.

Scientific Reports
H Kim, CJ Lee, H Pak, DI Kim, MY Rhee, BK Lee, Y Ahn, BR Cho, JT Woo, SH Hur, JO Jeong, JH Lee, SH Lee
Publication Date: 2020-11-09

Variant appearance in text: LDLR: E228X
PubMed Link: 33168860
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: E228X
PubMed Link: 32793292
Variant Present in the following documents:
  • Main text
View BVdb publication page



Statin-induced myopathic changes in primary human muscle cells and reversal by a prostaglandin F2 alpha analogue.

Scientific Reports
SA Grunwald, O Popp, S Haafke, N Jedraszczak, U Grieben, K Saar, G Patone, W Kress, E Steinhagen-Thiessen, G Dittmar, S Spuler
Publication Date: 2020-02-07

Variant appearance in text: rs121908029
PubMed Link: 32034223
Variant Present in the following documents:
  • Main text
View BVdb publication page



Real-World Outcomes with Lomitapide Use in Paediatric Patients with Homozygous Familial Hypercholesterolaemia.

Advances In Therapy
T Ben-Omran, L Masana, G Kolovou, G Ariceta, FJ Nóvoa, AM Lund, MP Bogsrud, M Araujo, O Hussein, D Ibarretxe, RM Sanchez-Hernández, RD Santos
Publication Date: 2019-07

Variant appearance in text: LDLR: 682G>T
PubMed Link: 31102204
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.

Journal Of Lipid Research
AS Geller, EY Polisecki, MR Diffenderfer, BF Asztalos, SK Karathanasis, RA Hegele, EJ Schaefer
Publication Date: 2018-12

Variant appearance in text: LDLR: 682G>T; E228*
PubMed Link: 30333156
Variant Present in the following documents:
  • Main text
  • jlrM088203.pdf
View BVdb publication page



Mutation detection in Chinese patients with familial hypercholesterolemia.

Springerplus
R Du, LL Fan, MJ Lin, ZJ He, H Huang, YQ Chen, JJ Li, K Xia, SP Zhao, R Xiang
Publication Date: 2016

Variant appearance in text: LDLR: 682G>T; E228X
PubMed Link: 28028493
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: Glu228Ter
PubMed Link: 27050191
Variant Present in the following documents:
  • NIHMS853613-supplement-Appendix.docx
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: 682G>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: 682G>T; E228X
PubMed Link: 25962062
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: 682G>T; E228*
PubMed Link: 24987033
Variant Present in the following documents:
  • jmedgenet-2014-102405-s1.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: 682G>T; Glu228*
PubMed Link: 23669246
Variant Present in the following documents:
  • 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: 682G>T; E228X
PubMed Link: 23054246
Variant Present in the following documents:
  • Main text
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: E228X
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.937G>T p.Glu313* stop_gained 4/18 -
ENST00000455727.2 c.314-1804G>T - intron_variant - 3/15
ENST00000535915.1 c.559G>T p.Glu187* stop_gained 3/17 -
ENST00000545707.1 c.314-977G>T - intron_variant - 3/15
ENST00000557933.1 c.682G>T p.Glu228* stop_gained 4/18 -
ENST00000558013.1 c.682G>T p.Glu228* stop_gained 4/18 -
ENST00000558518.1 c.682G>T p.Glu228* stop_gained 4/18 -
ENST00000560467.1 c.283G>T p.Glu95* stop_gained 1/6 -
NM_000527.5 c.682G>T p.Glu228* stop_gained 4/18 -
NM_001195798.2 c.682G>T p.Glu228* stop_gained 4/18 -
NM_001195799.2 c.559G>T p.Glu187* stop_gained 3/17 -
NM_001195800.2 c.314-1804G>T - intron_variant - 3/15
NM_001195803.2 c.314-977G>T - intron_variant - 3/15