LDLR c.2389+116G>A

Variant ID: 19-11238877-G-A

NM_000527.4(LDLR):c.2389+116G>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: 2389+116G>A
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
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: rs2304182
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
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: rs2304182
PubMed Link: 20308432
Variant Present in the following documents:
  • Main text
View BVdb publication page