LDLR c.2000G>A ;(p.C667Y)

Variant ID: 19-11231058-G-A

NM_000527.4(LDLR):c.2000G>A;(p.C667Y)

This variant was identified in 21 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: LDLR: 2000G>A; Cys667Tyr
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.

Genes
Madar, László L; Juhász, Lilla L; Szűcs, Zsuzsanna Z; Kerkovits, Lóránt L; Harangi, Mariann M; Balogh, István I
Publication Date: 2022-01-15

Variant appearance in text: LDLR: 2000G>A; Cys667Tyr
PubMed Link: 35052492
Variant Present in the following documents:
  • Main text
  • genes-13-00153.pdf
View BVdb publication page



Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.

Genes
Madar, László L; Juhász, Lilla L; Szűcs, Zsuzsanna Z; Kerkovits, Lóránt L; Harangi, Mariann M; Balogh, István I
Publication Date: 2022-01-15

Variant appearance in text: LDLR: 2000G>A; Cys667Tyr
PubMed Link: 35052492
Variant Present in the following documents:
  • Main text
  • genes-13-00153.pdf
View BVdb publication page



Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia.

Journal Of Personalized Medicine
Hindi, Nagham N NN; Alenbawi, Jamil J; Nemer, Georges G
Publication Date: 2021-08-31

Variant appearance in text: LDLR: C667Y
PubMed Link: 34575654
Variant Present in the following documents:
  • Main text
  • jpm-11-00877.pdf
View BVdb publication page



Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine
Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL
Publication Date: 2021-09-09

Variant appearance in text: LDLR: C667Y
PubMed Link: 34503567
Variant Present in the following documents:
  • 13073_2021_964_MOESM6_ESM.xlsx, sheet 1
  • 13073_2021_964_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.

Jama Cardiology
Sturm, Amy C AC; Truty, Rebecca R; Callis, Thomas E TE; Aguilar, Sienna S; Esplin, Edward D ED; Garcia, Sarah S; Haverfield, Eden V EV; Morales, Ana A; Nussbaum, Robert L RL; Rojahn, Susan S; Vatta, Matteo M; Rader, Daniel J DJ
Publication Date: 2021-08-01

Variant appearance in text: LDLR: 2000G>A; Cys667Tyr
PubMed Link: 34037665
Variant Present in the following documents:
  • jamacardiol-e211301-s001.pdf
View BVdb publication page



Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability.

Journal Of Medical Genetics
Bchetnia, Mbarka M; Bouchard, Luigi L; Mathieu, Jean J; Campeau, Philippe M PM; Morin, Charles C; Brisson, Diane D; Laberge, Anne-Marie AM; Vézina, Hélène H; Gaudet, Daniel D; Laprise, Catherine C
Publication Date: 2021-10

Variant appearance in text: LDLR: 2000G>A; Cys667Tyr
PubMed Link: 33910931
Variant Present in the following documents:
  • Main text
View BVdb publication page



Montreal-FH-SCORE Predicts Coronary Artery Calcium Score in Patients With Familial Hypercholesterolemia.

Cjc Open
Béland-Bonenfant, Sarah S; Paquette, Martine M; Fantino, Manon M; Bourque, Lucienne L; Saint-Pierre, Nathalie N; Baass, Alexis A; Bernard, Sophie S
Publication Date: 2021-01

Variant appearance in text: LDLR: C667Y
PubMed Link: 33458631
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Proteostasis Regulation in the Endoplasmic Reticulum: An Emerging Theme in the Molecular Pathology and Therapeutic Management of Familial Hypercholesterolemia.

Frontiers In Genetics
Oommen, Deepu D; Kizhakkedath, Praseetha P; Jawabri, Aseel A AA; Varghese, Divya Saro DS; Ali, Bassam R BR
Publication Date: 2020

Variant appearance in text: LDLR: 2000G>A; C667Y; rs28942083
PubMed Link: 33173538
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.

Circulation. Genomic And Precision Medicine
Trinder, Mark M; Paquette, Martine M; Cermakova, Lubomira L; Ban, Matthew R MR; Hegele, Robert A RA; Baass, Alexis A; Brunham, Liam R LR
Publication Date: 2020-10

Variant appearance in text: rs28942083
PubMed Link: 33079599
Variant Present in the following documents:
  • hcg-13-515-s001.pdf
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: LDLR: C667Y
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
,
Publication Date: 2020-09

Variant appearance in text: LDLR: 2000G>A; Cys667Tyr
PubMed Link: 32546831
Variant Present in the following documents:
  • NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1
View BVdb publication page



Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolaemia: A Propensity Score Analysis.

Life (Basel, Switzerland)
Mickiewicz, Agnieszka A; Futema, Marta M; Ćwiklinska, Agnieszka A; Kuchta, Agnieszka A; Jankowski, Maciej M; Kaszubowski, Mariusz M; Chmara, Magdalena M; Wasąg, Bartosz B; Fijałkowski, Marcin M; Jaguszewski, Miłosz M; Humphries, Steve E SE; Gruchała, Marcin M
Publication Date: 2020-05-20

Variant appearance in text: LDLR: 2000G>A; Cys667Tyr
PubMed Link: 32443900
Variant Present in the following documents:
  • life-10-00073-s001.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: 2000G>A; Cys667Tyr
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



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

Scientific Reports
Grunwald, Stefanie Anke SA; Popp, Oliver O; Haafke, Stefanie S; Jedraszczak, Nicole N; Grieben, Ulrike U; Saar, Kathrin K; Patone, Giannino G; Kress, Wolfram W; Steinhagen-Thiessen, Elisabeth E; Dittmar, Gunnar G; Spuler, Simone S
Publication Date: 2020-02-07

Variant appearance in text: rs28942083
PubMed Link: 32034223
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_58668.pdf
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: LDLR: 2000G>A; C667Y
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: LDLR: 2000G>A; Cys667Tyr
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
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
Benito-Vicente, Asier A; Uribe, Kepa B KB; Jebari, Shifa S; Galicia-Garcia, Unai U; Ostolaza, Helena H; Martin, Cesar C
Publication Date: 2018-06-05

Variant appearance in text: LDLR: 2000G>A; Cys667Tyr
PubMed Link: 29874871
Variant Present in the following documents:
  • Main text
  • ijms-19-01676.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: LDLR: 2000G>A; Cys667Tyr
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs28942083
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: LDLR: C667Y
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Distribution and effects of nonsense polymorphisms in human genes.

Plos One
Yamaguchi-Kabata, Yumi Y; Shimada, Makoto K MK; Hayakawa, Yosuke Y; Minoshima, Shinsei S; Chakraborty, Ranajit R; Gojobori, Takashi T; Imanishi, Tadashi T
Publication Date: 2008

Variant appearance in text: rs28942083
PubMed Link: 18852891
Variant Present in the following documents:
View BVdb publication page