LDLR c.90C>T ;(p.N30=)

Variant ID: 19-11210921-C-T

NM_000527.4(LDLR):c.90C>T;(p.N30=)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Genetic Determinants of Cardiovascular Disease: The Endothelial Nitric Oxide Synthase 3 (eNOS3), Krüppel-Like Factor-14 (KLF-14), Methylenetetrahydrofolate Reductase (MTHFR), MiRNAs27a and Their Association with the Predisposition and Susceptibility to Coronary Artery Disease.

Life (Basel, Switzerland)
Mir, Rashid R; Elfaki, Imadeldin I; Javid, Jamsheed J; Barnawi, Jameel J; Altayar, Malik A MA; Albalawi, Salem Owaid SO; Jalal, Mohammed M MM; Tayeb, Faris J FJ; Yousif, Aadil A; Ullah, Mohammad Fahad MF; AbuDuhier, Faisel M FM
Publication Date: 2022-11-16

Variant appearance in text: rs72658855
PubMed Link: 36431040
Variant Present in the following documents:
  • life-12-01905.pdf
View BVdb publication page



Cellular Mechanisms of Human Atherogenesis: Focus on Chronification of Inflammation and Mitochondrial Mutations.

Frontiers In Pharmacology
Markin, Alexander M AM; Sobenin, Igor A IA; Grechko, Andrey V AV; Zhang, Dongwei D; Orekhov, Alexander N AN
Publication Date: 2020

Variant appearance in text: rs72658855
PubMed Link: 32528276
Variant Present in the following documents:
  • fphar-11-00642.pdf
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
Hayat, Mahtaab M; Kerr, Robyn R; Bentley, Amy R AR; Rotimi, Charles N CN; Raal, Frederick J FJ; Ramsay, Michèle M
Publication Date: 2020

Variant appearance in text: rs72658855
PubMed Link: 32084179
Variant Present in the following documents:
  • Main text
  • pone.0229098.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: 90C>T; Asn30=
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
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: Asn30Asn
PubMed Link: 25606447
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Meta-analysis of gene-level tests for rare variant association.

Nature Genetics
Liu, Dajiang J DJ; Peloso, Gina M GM; Zhan, Xiaowei X; Holmen, Oddgeir L OL; Zawistowski, Matthew M; Feng, Shuang S; Nikpay, Majid M; Auer, Paul L PL; Goel, Anuj A; Zhang, He H; Peters, Ulrike U; Farrall, Martin M; Orho-Melander, Marju M; Kooperberg, Charles C; McPherson, Ruth R; Watkins, Hugh H; Willer, Cristen J CJ; Hveem, Kristian K; Melander, Olle O; Kathiresan, Sekar S; Abecasis, Gonçalo R GR
Publication Date: 2014-02

Variant appearance in text: rs72658855
PubMed Link: 24336170
Variant Present in the following documents:
  • Main text
  • NIHMS543085-supplement-1.pdf
  • nihms543085.pdf
View BVdb publication page