Variant ID: 19-11226800-C-T

NM_000527.4(LDLR):c.1617C>T;(p.Pro539Pro)

This variant was identified in 12 publications




Publications:


Molecular Genetic Approach and Evaluation of Cardiovascular Events in Patients with Clinical Familial Hypercholesterolemia Phenotype from Romania.

Journal Of Clinical Medicine
CE Vlad, LG Foia, R Popescu, I Popa, R Aanicai, D Reurean-Pintilei, V Toma, L Florea, M Kanbay, A Covic
Publication Date: 2021-03-31

Variant appearance in text: LDLR: 1617C>T; Pro539=
PubMed Link: 33807407
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic associations between serum low LDL-cholesterol levels and variants in LDLR, APOB, PCSK9 and LDLRAP1 in African populations.

Plos One
M Hayat, R Kerr, AR Bentley, CN Rotimi, FJ Raal, M Ramsay
Publication Date: 2020

Variant appearance in text: rs5929
PubMed Link: 32084179
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: rs5929
PubMed Link: 26892515
Variant Present in the following documents:
  • mmc1.doc
View BVdb publication page



Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology
Publication Date: 2015-06-26

Variant appearance in text: rs5929
PubMed Link: 26112015
Variant Present in the following documents:
  • 13059_2015_693_MOESM3_ESM.xls
View BVdb publication page



Apolipoprotein E and protection against hepatitis E viral infection in American non-Hispanic blacks.

Hepatology (Baltimore, Md.)
L Zhang, A Yesupriya, MH Chang, E Teshale, CG Teo
Publication Date: 2015-11

Variant appearance in text: rs5929
PubMed Link: 26096528
Variant Present in the following documents:
  • NIHMS1043972-supplement-Supplemental.pdf
View BVdb publication page



Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).

Meta Gene
T Cymbron, P Mendes, A Ramos, M Raposo, N Kazachkova, AM Medeiros, J Bruges-Armas, M Bourbon, M Lima
Publication Date: 2014-12

Variant appearance in text: LDLR: Pro539Pro; rs5929
PubMed Link: 25606447
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-exome sequencing for the identification of susceptibility genes of Kashin-Beck disease.

Plos One
Z Yang, Y Xu, H Luo, X Ma, Q Wang, Y Wang, W Deng, T Jiang, G Sun, T He, J Hu, Y Li, J Wang, T Li, X Hu
Publication Date: 2014

Variant appearance in text: rs5929
PubMed Link: 24776925
Variant Present in the following documents:
  • pone.0092298.s005.xlsx
View BVdb publication page



Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.

Bmc Medical Genetics
TY Komarova, VA Korneva, TY Kuznetsova, AS Golovina, VB Vasilyev, MY Mandelshtam
Publication Date: 2013-12-27

Variant appearance in text: LDLR: 1617C>T; Pro539=
PubMed Link: 24373485
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetic spectrum of familial hypercholesterolemia in Pakistan.

Clinica Chimica Acta; International Journal Of Clinical Chemistry
W Ahmed, R Whittall, M Riaz, M Ajmal, A Sadeque, H Ayub, R Qamar, SE Humphries
Publication Date: 2013-06-05

Variant appearance in text: LDLR: 1617C>T
PubMed Link: 23535506
Variant Present in the following documents:
  • mmc1.docx
  • Main text
View BVdb publication page



Enhanced statistical tests for GWAS in admixed populations: assessment using African Americans from CARe and a Breast Cancer Consortium.

Plos Genetics
B Pasaniuc, N Zaitlen, G Lettre, GK Chen, A Tandon, WH Kao, I Ruczinski, M Fornage, DS Siscovick, X Zhu, E Larkin, LA Lange, LA Cupples, Q Yang, EL Akylbekova, SK Musani, J Divers, J Mychaleckyj, M Li, GJ Papanicolaou, RC Millikan, CB Ambrosone, EM John, L Bernstein, W Zheng, JJ Hu, RG Ziegler, SJ Nyante, EV Bandera, SA Ingles, MF Press, SJ Chanock, SL Deming, JL Rodriguez-Gil, CD Palmer, S Buxbaum, L Ekunwe, JN Hirschhorn, BE Henderson, S Myers, CA Haiman, D Reich, N Patterson, JG Wilson, AL Price
Publication Date: 2011-04

Variant appearance in text: rs5929
PubMed Link: 21541012
Variant Present in the following documents:
  • pgen.1001371.s008.doc
View BVdb publication page



Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.

Bmc Medical Genetics
A Al-Khateeb, MK Zahri, MS Mohamed, TH Sasongko, S Ibrahim, Z Yusof, BA Zilfalil
Publication Date: 2011-03-19

Variant appearance in text: LDLR: 1617C>T; Pro539Pro; rs5929
PubMed Link: 21418584
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association analysis of 33 lipoprotein candidate genes in multi-generational families of African ancestry.

Journal Of Lipid Research
I Miljkovic, LM Yerges-Armstrong, LH Kuller, AL Kuipers, X Wang, CM Kammerer, CS Nestlerode, CH Bunker, AL Patrick, VW Wheeler, RW Evans, JM Zmuda
Publication Date: 2010-07

Variant appearance in text: rs5929
PubMed Link: 20308432
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.1872C>T p.Pro624= synonymous_variant 11/18 -
ENST00000455727.2 c.1113C>T p.Pro371= synonymous_variant 9/16 -
ENST00000535915.1 c.1494C>T p.Pro498= synonymous_variant 10/17 -
ENST00000545707.1 c.1236C>T p.Pro412= synonymous_variant 10/16 -
ENST00000557933.1 c.1617C>T p.Pro539= synonymous_variant 11/18 -
ENST00000558013.1 c.1617C>T p.Pro539= synonymous_variant 11/18 -
ENST00000558518.1 c.1617C>T p.Pro539= synonymous_variant 11/18 -
ENST00000559340.1 c.339C>T p.Pro113= synonymous_variant,NMD_transcript_variant 3/5 -
NM_000527.5 c.1617C>T p.Pro539= synonymous_variant 11/18 -
NM_001195798.2 c.1617C>T p.Pro539= synonymous_variant 11/18 -
NM_001195799.2 c.1494C>T p.Pro498= synonymous_variant 10/17 -
NM_001195800.2 c.1113C>T p.Pro371= synonymous_variant 9/16 -
NM_001195803.2 c.1236C>T p.Pro412= synonymous_variant 10/16 -