LDLR c.907C>T ;(p.R303W)

Variant ID: 19-11218157-C-T

NM_000527.4(LDLR):c.907C>T;(p.R303W)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Homozygous Familial Hypercholesterolemia: Luck Meets Opportunity Meets Knowledge.

Jacc. Case Reports
Young, Lisa L; Brown, Emily E EE; Martin, Seth S SS
Publication Date: 2022-12-07

Variant appearance in text: LDLR: 907C>T
PubMed Link: 36507290
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Whole Exome Sequencing Insufficient for a Definitive Diagnosis of a Patient with Compound Heterozygous Familial Hypercholesterolemia.

Internal Medicine (Tokyo, Japan)
Okada, Hirofumi H; Tada, Hayato H; Nomura, Akihiro A; Nohara, Atsushi A; Okeie, Kazuyasu K; Nozue, Tsuyoshi T; Michishita, Ichiro I; Takamura, Masayuki M; Takemura, Hirofumi H; Kawashiri, Masa-Aki MA
Publication Date: 2022

Variant appearance in text: LDLR: 907C>T
PubMed Link: 36184534
Variant Present in the following documents:
  • 1349-7235-61-2883.pdf
View BVdb publication page



Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel.

Genes
Rutkowska, Lena L; Sałacińska, Kinga K; Salachna, Dominik D; Matusik, Paweł P; Pinkier, Iwona I; Kępczyński, Łukasz Ł; Piotrowicz, Małgorzata M; Starostecka, Ewa E; Lewiński, Andrzej A; Gach, Agnieszka A
Publication Date: 2022-06-01

Variant appearance in text: LDLR: 907C>T
PubMed Link: 35741760
Variant Present in the following documents:
  • Main text
  • genes-13-00999.pdf
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: rs151207122
PubMed Link: 33079599
Variant Present in the following documents:
  • hcg-13-515-s001.pdf
View BVdb publication page



Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease.

Jama Cardiology
Trinder, Mark M; Francis, Gordon A GA; Brunham, Liam R LR
Publication Date: 2020-04-01

Variant appearance in text: rs151207122
PubMed Link: 32049305
Variant Present in the following documents:
  • jamacardiol-5-390-s001.pdf
View BVdb publication page



Effects of Genetic Variants Associated with Familial Hypercholesterolemia on Low-Density Lipoprotein-Cholesterol Levels and Cardiovascular Outcomes in the Million Veteran Program.

Circulation. Genomic And Precision Medicine
Sun, Yan V YV; Damrauer, Scott M SM; Hui, Qin Q; Assimes, Themistocles L TL; Ho, Yuk-Lam YL; Natarajan, Pradeep P; Klarin, Derek D; Huang, Jie J; Lynch, Julie J; DuVall, Scott L SL; Pyarajan, Saiju S; Honerlaw, Jacqueline P JP; Gaziano, J Michael JM; Cho, Kelly K; Rader, Daniel J DJ; O'Donnell, Christopher J CJ; Tsao, Philip S PS; Wilson, Peter W F PWF
Publication Date: 2018-12

Variant appearance in text: LDLR: Arg303Trp; rs151207122
PubMed Link: 31106297
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: LDLR: R303W; rs151207122
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
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: 907C>T; Arg303Trp
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page