LDLR c.67+121C>T

Variant ID: 19-11200412-C-T

NM_000527.4(LDLR):c.67+121C>T

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Whole-genome sequencing and gene network modules predict gemcitabine/carboplatin-induced myelosuppression in non-small cell lung cancer patients.

Npj Systems Biology And Applications
Björn, Niclas N; Badam, Tejaswi Venkata Satya TVS; Spalinskas, Rapolas R; Brandén, Eva E; Koyi, Hirsh H; Lewensohn, Rolf R; De Petris, Luigi L; Lubovac-Pilav, Zelmina Z; Sahlén, Pelin P; Lundeberg, Joakim J; Gustafsson, Mika M; Gréen, Henrik H
Publication Date: 2020-08-24

Variant appearance in text: rs12981050
PubMed Link: 32839457
Variant Present in the following documents:
  • Main text
  • 41540_2020_Article_146.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: 67+121C>T
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Large-scale genome-wide enrichment analyses identify new trait-associated genes and pathways across 31 human phenotypes.

Nature Communications
Zhu, Xiang X; Stephens, Matthew M
Publication Date: 2018-10-19

Variant appearance in text: rs12981050
PubMed Link: 30341297
Variant Present in the following documents:
  • 41467_2018_6805_MOESM1_ESM.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: rs12981050
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



A genetic variant in the LDLR promoter is responsible for part of the LDL-cholesterol variability in primary hypercholesterolemia.

Bmc Medical Genomics
De Castro-Orós, Isabel I; Pérez-López, Javier J; Mateo-Gallego, Rocio R; Rebollar, Soraya S; Ledesma, Marta M; León, Montserrat M; Cofán, Montserrat M; Casasnovas, Jose A JA; Ros, Emilio E; Rodríguez-Rey, Jose C JC; Civeira, Fernando F; Pocoví, Miguel M
Publication Date: 2014-04-07

Variant appearance in text: rs12981050
PubMed Link: 24708769
Variant Present in the following documents:
  • Main text
  • 1755-8794-7-17.pdf
View BVdb publication page