LDLR c.760C>T ;(p.Q254*)

Variant ID: 19-11217306-C-T

NM_000527.4(LDLR):c.760C>T;(p.Q254*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.

Iscience
Du, Zhiyong Z; Li, Fan F; Li, Linyi L; Wang, Yu Y; Li, Jianping J; Yang, Ya Y; Jiang, Long L; Wang, Luya L; Qin, Yanwen Y
Publication Date: 2022-11-18

Variant appearance in text: LDLR: 760C>T; Gln254Ter
PubMed Link: 36325061
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Fragmentation patterns and personalized sequencing of cell-free DNA in urine and plasma of glioma patients.

Embo Molecular Medicine
Mouliere, Florent F; Smith, Christopher G CG; Heider, Katrin K; Su, Jing J; van der Pol, Ymke Y; Thompson, Mareike M; Morris, James J; Wan, Jonathan C M JCM; Chandrananda, Dineika D; Hadfield, James J; Grzelak, Marta M; Hudecova, Irena I; Couturier, Dominique-Laurent DL; Cooper, Wendy W; Zhao, Hui H; Gale, Davina D; Eldridge, Matthew M; Watts, Colin C; Brindle, Kevin K; Rosenfeld, Nitzan N; Mair, Richard R
Publication Date: 2021-08-09

Variant appearance in text: LDLR: 760C>T; Gln254Ter
PubMed Link: 34291583
Variant Present in the following documents:
  • EMMM-13-e12881-s004.xlsx, sheet 1
View BVdb publication page



Mutation detection in Chinese patients with familial hypercholesterolemia.

Springerplus
Du, Ran R; Fan, Liang-Liang LL; Lin, Min-Jie MJ; He, Zhi-Jian ZJ; Huang, Hao H; Chen, Ya-Qin YQ; Li, Jing-Jing JJ; Xia, Kun K; Zhao, Shui-Ping SP; Xiang, Rong R
Publication Date: 2016

Variant appearance in text: LDLR: 760C>T; Q254X
PubMed Link: 28028493
Variant Present in the following documents:
  • Main text
  • 40064_2016_Article_3763.pdf
View BVdb publication page