LDLR c.2312-445C>G

Variant ID: 19-11238239-C-G

NM_000527.4(LDLR):c.2312-445C>G

This variant was identified in 6 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: rs2569540
PubMed Link: 36901902
Variant Present in the following documents:
  • Main text
  • ijms-24-04471.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: rs2569540
PubMed Link: 32084179
Variant Present in the following documents:
  • Main text
  • pone.0229098.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: rs2569540
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



APOB codon 4311 polymorphism is associated with hepatitis C virus infection through altered lipid metabolism.

Bmc Gastroenterology
Harada, Rie R; Kimura, Masako M; Sato, Yasushi Y; Taniguchi, Tatsuya T; Tomonari, Tetsu T; Tanaka, Takahiro T; Tanaka, Hironori H; Muguruma, Naoki N; Shinomiya, Hirohiko H; Honda, Hirohito H; Imoto, Issei I; Sogabe, Masahiro M; Okahisa, Toshiya T; Takayama, Tetsuji T
Publication Date: 2018-01-30

Variant appearance in text: rs2569540
PubMed Link: 29382324
Variant Present in the following documents:
  • Main text
  • 12876_2018_Article_747.pdf
View BVdb publication page



Genetic, metabolic and environmental factors involved in the development of liver cirrhosis in Mexico.

World Journal Of Gastroenterology
Ramos-Lopez, Omar O; Martinez-Lopez, Erika E; Roman, Sonia S; Fierro, Nora A NA; Panduro, Arturo A
Publication Date: 2015-11-07

Variant appearance in text: rs2569540
PubMed Link: 26556986
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
Miljkovic, I I; Yerges-Armstrong, L M LM; Kuller, L H LH; Kuipers, A L AL; Wang, X X; Kammerer, C M CM; Nestlerode, C S CS; Bunker, C H CH; Patrick, A L AL; Wheeler, V W VW; Evans, R W RW; Zmuda, J M JM
Publication Date: 2010-07

Variant appearance in text: rs2569540
PubMed Link: 20308432
Variant Present in the following documents:
  • Main text
View BVdb publication page