LRP1B c.1759G>C ;(p.G587R)

Variant ID: 2-141806585-C-G

NM_018557.2(LRP1B):c.1759G>C;(p.G587R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of a novel MYOC variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressure.

Cold Spring Harbor Molecular Case Studies
Criscione, June J; Ji, Weizhen W; Jeffries, Lauren L; McGrath, James M JM; Soloway, Scott S; Pusztai, Lajos L; Lakhani, Saquib S
Publication Date: 2019-12

Variant appearance in text: LRP1B: 1759G>C; G587R
PubMed Link: 31653660
Variant Present in the following documents:
  • Main text
  • MCS004374Cri.pdf
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: LRP1B: Gly587Arg
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page