Variant ID: 19-11227576-C-T

NM_000527.4(LDLR):c.1747C>T;(p.His583Tyr)

This variant was identified in 17 publications




Publications:


Familial Hypercholesterolemia in Asia Pacific: A Review of Epidemiology, Diagnosis, and Management in the Region.

Journal Of Atherosclerosis And Thrombosis
S Kalra, Z Chen, C Deerochanawong, KG Shyu, RS Tan, B Tomlinson, HI Yeh
Publication Date: 2021-03-19

Variant appearance in text: LDLR: His583Tyr
PubMed Link: 33746137
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identifying familial hypercholesterolemia in an early onset ischemic cerebrovascular disease patient and the cascade screening in the pedigree: a case report.

Annals Of Translational Medicine
Y Yuan, X Zhao, X Teng, Y Zhang
Publication Date: 2021-01

Variant appearance in text: LDLR: 1747C>T; His583Tyr
PubMed Link: 33569482
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: 1747C>T; H583Y
PubMed Link: 32793292
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeted Genetic Analysis in a Chinese Cohort of 208 Patients Related to Familial Hypercholesterolemia.

Journal Of Atherosclerosis And Thrombosis
H Wang, H Yang, Z Liu, K Cui, Y Zhang, Y Zhang, K Zhao, K Yin, W Li, Z Zhou
Publication Date: 2020-12-01

Variant appearance in text: LDLR: 1747C>T; His583Tyr
PubMed Link: 32759540
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: His583Tyr
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: 1747C>T; His583Tyr
PubMed Link: 32629184
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical Evaluation Of Evolocumab For The Treatment Of Homozygous Familial Hypercholesterolemia In Chinese Patients.

Therapeutics And Clinical Risk Management
CC Huang, MJ Charng
Publication Date: 2019

Variant appearance in text: LDLR: H583Y
PubMed Link: 31686828
Variant Present in the following documents:
  • tcrm-15-1209.pdf
  • Main text
View BVdb publication page



Current Status of Familial Hypercholesterolemia in China: A Need for Patient FH Registry Systems.

Frontiers In Physiology
P Chen, X Chen, S Zhang
Publication Date: 2019

Variant appearance in text: LDLR: 1747C>T; His583Tyr
PubMed Link: 30949068
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variations in familial hypercholesterolemia and cascade screening in East Asians.

Molecular Genetics & Genomic Medicine
ML Chan, CL Cheung, AC Lee, CY Yeung, CW Siu, JY Leung, HK Pang, KC Tan
Publication Date: 2019-02

Variant appearance in text: LDLR: 1747C>T
PubMed Link: 30592178
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation.

Lipids In Health And Disease
D Sun, BY Zhou, S Li, NL Sun, Q Hua, SL Wu, YS Cao, YL Guo, NQ Wu, CG Zhu, Y Gao, CJ Cui, G Liu, JJ Li
Publication Date: 2018-11-06

Variant appearance in text: LDLR: 1747C>T; H583Y
PubMed Link: 30400955
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: 1747C>T; His583Tyr
PubMed Link: 29874871
Variant Present in the following documents:
  • Main text
View BVdb publication page



Detection of Familial Hypercholesterolemia Using Next Generation Sequencing in Two Population-Based Cohorts.

Chonnam Medical Journal
HN Kim, SS Kweon, MH Shin
Publication Date: 2018-01

Variant appearance in text: LDLR: His583Tyr
PubMed Link: 29399563
Variant Present in the following documents:
  • Main text
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: 1747C>T; H583Y
PubMed Link: 28028493
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: His583Tyr
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: His583Tyr
PubMed Link: 27050191
Variant Present in the following documents:
  • NIHMS853613-supplement-Appendix.docx
View BVdb publication page



Management of Familial Hypercholesterolemia in Hong Kong.

Journal Of Atherosclerosis And Thrombosis
M Hu, AJ Hooper, FM Bockxmeer, GF Watts, JC Chan, B Tomlinson
Publication Date: 2016-05-02

Variant appearance in text: LDLR: His583Tyr
PubMed Link: 26875521
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: 1747C>T
PubMed Link: 26608663
Variant Present in the following documents:
  • srep17272-s1.doc
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.2002C>T p.His668Tyr missense_variant 12/18 -
ENST00000455727.2 c.1243C>T p.His415Tyr missense_variant 10/16 -
ENST00000535915.1 c.1624C>T p.His542Tyr missense_variant 11/17 -
ENST00000545707.1 c.1366C>T p.His456Tyr missense_variant 11/16 -
ENST00000557933.1 c.1747C>T p.His583Tyr missense_variant 12/18 -
ENST00000558013.1 c.1747C>T p.His583Tyr missense_variant 12/18 -
ENST00000558518.1 c.1747C>T p.His583Tyr missense_variant 12/18 -
ENST00000559340.1 c.426+688C>T - intron_variant,NMD_transcript_variant - 3/4
NM_000527.5 c.1747C>T p.His583Tyr missense_variant 12/18 -
NM_001195798.2 c.1747C>T p.His583Tyr missense_variant 12/18 -
NM_001195799.2 c.1624C>T p.His542Tyr missense_variant 11/17 -
NM_001195800.2 c.1243C>T p.His415Tyr missense_variant 10/16 -
NM_001195803.2 c.1366C>T p.His456Tyr missense_variant 11/16 -