LDLR c.1725C>T ;(p.L575=)

Variant ID: 19-11227554-C-T

NM_000527.4(LDLR):c.1725C>T;(p.L575=)

This variant was identified in 23 publications

View GRCh38 version.




Publications:


Calling and Phasing of Single-Nucleotide and Structural Variants of the LDLR Gene Using Oxford Nanopore MinION.

International Journal Of Molecular Sciences
Nazarenko, Maria S MS; Sleptcov, Aleksei A AA; Zarubin, Aleksei A AA; Salakhov, Ramil R RR; Shevchenko, Alexander I AI; Tmoyan, Narek A NA; Elisaphenko, Eugeny A EA; Zubkova, Ekaterina S ES; Zheltysheva, Nina V NV; Ezhov, Marat V MV; Kukharchuk, Valery V VV; Parfyonova, Yelena V YV; Zakian, Suren M SM; Zakharova, Irina S IS
Publication Date: 2023-02-24

Variant appearance in text: LDLR: Leu575=; rs1799898
PubMed Link: 36901902
Variant Present in the following documents:
  • Main text
  • ijms-24-04471.pdf
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: LDLR: L575L; rs1799898
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: LDLR: L575L; rs1799898
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: LDLR: 1725C>T
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genome-Wide Characterization of a Highly Penetrant Form of Hyperlipoprotein(a)emia Associated With Genetically Elevated Cardiovascular Risk.

Circulation. Genomic And Precision Medicine
Coassin, Stefan S; Chemello, Kevin K; Khantalin, Ilya I; Forer, Lukas L; Döttelmayer, Patricia P; Schönherr, Sebastian S; Grüneis, Rebecca R; Chong-Hong-Fong, Clément C; Nativel, Brice B; Ramin-Mangata, Stéphane S; Gallo, Antonio A; Roche, Mathias M; Muelegger, Beatrix B; Gieger, Christian C; Peters, Annette A; Zschocke, Johannes J; Marimoutou, Catherine C; Meilhac, Olivier O; Lamina, Claudia C; Kronenberg, Florian F; Blanchard, Valentin V; Lambert, Gilles G
Publication Date: 2022-04

Variant appearance in text: LDLR: Leu575Leu; rs1799898
PubMed Link: 35133173
Variant Present in the following documents:
  • hcg-15-e003489-s001.pdf
View BVdb publication page



Association Between Genetically Proxied Lipid-Lowering Drug Targets and Renal Cell Carcinoma: A Mendelian Randomization Study.

Frontiers In Nutrition
Liu, Luyang L; Sheng, Chao C; Lyu, Zhangyan Z; Dai, Hongji H; Chen, Kexin K
Publication Date: 2021

Variant appearance in text: rs1799898
PubMed Link: 34712689
Variant Present in the following documents:
  • Main text
  • fnut-08-755834.pdf
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: LDLR: 1725C>T; Leu575=
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: LDLR: 1725C>T; Leu575=; rs1799898
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



SNP rs688 within the low-density lipoprotein receptor (LDL-R) gene associates with HCV susceptibility.

Liver International : Official Journal Of The International Association For The Study Of The Liver
Steba, Gaby S GS; Koekkoek, Sylvie M SM; Tanck, Michael W T MWT; Vanhommerig, Joost W JW; van der Meer, Jan T M JTM; Kwa, David D; Brinkman, Kees K; Prins, Maria M; Berkhout, Ben B; Pollakis, Georgios G; Molenkamp, Richard R; Schinkel, Janke J; Paxton, William A WA; ,
Publication Date: 2019-03

Variant appearance in text: rs1799898
PubMed Link: 30260075
Variant Present in the following documents:
  • Main text
  • LIV-39-463.pdf
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs1799898
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



LDLR rs688 TT Genotype and T Allele Are Associated with Increased Susceptibility to Coronary Artery Disease-A Case-Control Study.

Journal Of Cardiovascular Development And Disease
Jha, Chandan K CK; Mir, Rashid R; Khullar, Naina N; Banu, Shaheena S; Chahal, S M S SMS
Publication Date: 2018-05-29

Variant appearance in text: rs1799898
PubMed Link: 29843469
Variant Present in the following documents:
  • Main text
  • jcdd-05-00031.pdf
View BVdb publication page



LDLR C1725T Gene Polymorphism Frequency in Type 2 Diabetes Mellitus Patients With Dyslipidemia.

Journal Of Clinical Medicine Research
Eroglu, Zuhal Z; Harman, Ece E; Vardarli, Egemen E; Kayikcioglu, Meral M; Vardarli, Asli Tetik AT
Publication Date: 2016-11

Variant appearance in text: rs1799898
PubMed Link: 27738480
Variant Present in the following documents:
  • Main text
  • jocmr-08-793.pdf
View BVdb publication page



Lipids, blood pressure and kidney update 2015.

Lipids In Health And Disease
Banach, Maciej M; Aronow, Wilbert S WS; Serban, Maria-Corina MC; Rysz, Jacek J; Voroneanu, Luminita L; Covic, Adrian A
Publication Date: 2015-12-30

Variant appearance in text: rs1799898
PubMed Link: 26718096
Variant Present in the following documents:
  • Main text
  • 12944_2015_Article_169.pdf
View BVdb publication page



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

Meta Gene
Cymbron, Teresa T; Mendes, Patrícia P; Ramos, Amanda A; Raposo, Mafalda M; Kazachkova, Nadiya N; Medeiros, Ana Margarida AM; Bruges-Armas, Jácome J; Bourbon, Mafalda M; Lima, Manuela M
Publication Date: 2014-12

Variant appearance in text: LDLR: Leu575Leu; rs1799898
PubMed Link: 25606447
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11

Variant appearance in text: LDLR: L575L
PubMed Link: 25496518
Variant Present in the following documents:
  • 40246_2014_20_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: LDLR: L575L; rs1799898
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Bayesian Generalized Low Rank Regression Models for Neuroimaging Phenotypes and Genetic Markers.

Journal Of The American Statistical Association
Zhu, Hongtu H; Khondker, Zakaria Z; Lu, Zhaohua Z; Ibrahim, Joseph G JG; ,
Publication Date: 2014

Variant appearance in text: rs1799898
PubMed Link: 25349462
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.

Nature Communications
Carmi, Shai S; Hui, Ken Y KY; Kochav, Ethan E; Liu, Xinmin X; Xue, James J; Grady, Fillan F; Guha, Saurav S; Upadhyay, Kinnari K; Ben-Avraham, Dan D; Mukherjee, Semanti S; Bowen, B Monica BM; Thomas, Tinu T; Vijai, Joseph J; Cruts, Marc M; Froyen, Guy G; Lambrechts, Diether D; Plaisance, Stéphane S; Van Broeckhoven, Christine C; Van Damme, Philip P; Van Marck, Herwig H; Barzilai, Nir N; Darvasi, Ariel A; Offit, Kenneth K; Bressman, Susan S; Ozelius, Laurie J LJ; Peter, Inga I; Cho, Judy H JH; Ostrer, Harry H; Atzmon, Gil G; Clark, Lorraine N LN; Lencz, Todd T; Pe'er, Itsik I
Publication Date: 2014-09-09

Variant appearance in text: LDLR: L575L
PubMed Link: 25203624
Variant Present in the following documents:
  • ncomms5835-s5.xlsx, sheet 4
View BVdb publication page



Identification of genes contributing to cardiovascular disease in overweight and obese individuals from West Virginia.

The West Virginia Medical Journal
Dementieva, Yulia Y; Green, Todd L TL; Primerano, Donald A DA; Wei, Liping L; Denvir, James J; Wehner, Paulette P; Dodson, Sarah S; Flood, Mark R MR; Pollock, Bonnie A BA; Huff, Melinda M; Hill, Contessa C; Kreisberg, Robert R; Francis, Amanda A; Morrison, Katie K; Blackwood, Holly H; Davis, Mary M; Lee, Huey Miin HM; Warren, Stafford S; ,
Publication Date: 2012

Variant appearance in text: LDLR: L575L; rs1799898
PubMed Link: 25134189
Variant Present in the following documents:
  • Main text
View BVdb publication page



Properties of local interactions and their potential value in complementing genome-wide association studies.

Plos One
Wei, Wenhua W; Gyenesei, Attila A; Semple, Colin A M CA; Haley, Chris S CS
Publication Date: 2013

Variant appearance in text: rs1799898
PubMed Link: 23940718
Variant Present in the following documents:
  • Main text
  • pone.0071203.pdf
View BVdb publication page



A common polymorphism in the LDL receptor gene has multiple effects on LDL receptor function.

Human Molecular Genetics
Gao, Feng F; Ihn, Hansel E HE; Medina, Marisa W MW; Krauss, Ronald M RM
Publication Date: 2013-04-01

Variant appearance in text: rs1799898
PubMed Link: 23297366
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dynamic genetic linkage of intermediate blood pressure phenotypes during postural adaptations in a founder population.

Physiological Genomics
Arenas, I A IA; Tremblay, J J; Deslauriers, B B; Sandoval, J J; Šeda, O O; Gaudet, D D; Merlo, E E; Kotchen, T T; Cowley, A W AW; Hamet, P P
Publication Date: 2013-02-15

Variant appearance in text: rs1799898
PubMed Link: 23269701
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome wide association (GWA) study for early onset extreme obesity supports the role of fat mass and obesity associated gene (FTO) variants.

Plos One
Hinney, Anke A; Nguyen, Thuy Trang TT; Scherag, André A; Friedel, Susann S; Brönner, Günter G; Müller, Timo Dirk TD; Grallert, Harald H; Illig, Thomas T; Wichmann, H-Erich HE; Rief, Winfried W; Schäfer, Helmut H; Hebebrand, Johannes J
Publication Date: 2007-12-26

Variant appearance in text: rs1799898
PubMed Link: 18159244
Variant Present in the following documents:
  • Main text
  • pone.0001361.pdf
View BVdb publication page