APOB c.134G>A ;(p.R45Q)

Variant ID: 2-21265336-C-T

NM_000384.2(APOB):c.134G>A;(p.R45Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.

Plos Genetics
Audain, Enrique E; Wilsdon, Anna A; Breckpot, Jeroen J; Izarzugaza, Jose M G JMG; Fitzgerald, Tomas W TW; Kahlert, Anne-Karin AK; Sifrim, Alejandro A; Wünnemann, Florian F; Perez-Riverol, Yasset Y; Abdul-Khaliq, Hashim H; Bak, Mads M; Bassett, Anne S AS; Benson, D Woodrow DW; Berger, Felix F; Daehnert, Ingo I; Devriendt, Koenraad K; Dittrich, Sven S; Daubeney, Piers Ef PE; Garg, Vidu V; Hackmann, Karl K; Hoff, Kirstin K; Hofmann, Philipp P; Dombrowsky, Gregor G; Pickardt, Thomas T; Bauer, Ulrike U; Keavney, Bernard D BD; Klaassen, Sabine S; Kramer, Hans-Heiner HH; Marshall, Christian R CR; Milewicz, Dianna M DM; Lemaire, Scott S; Coselli, Joseph S JS; Mitchell, Michael E ME; Tomita-Mitchell, Aoy A; Prakash, Siddharth K SK; Stamm, Karl K; Stewart, Alexandre F R AFR; Silversides, Candice K CK; Siebert, Reiner R; Stiller, Brigitte B; Rosenfeld, Jill A JA; Vater, Inga I; Postma, Alex V AV; Caliebe, Almuth A; Brook, J David JD; Andelfinger, Gregor G; Hurles, Matthew E ME; Thienpont, Bernard B; Larsen, Lars Allan LA; Hitz, Marc-Phillip MP
Publication Date: 2021-07

Variant appearance in text: APOB: 134G>A; Arg45His
PubMed Link: 34324492
Variant Present in the following documents:
  • pgen.1009679.s019.xlsx, sheet 3
View BVdb publication page



Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Journal Of Lipid Research
Zhou, Yitian Y; Mägi, Reedik R; Milani, Lili L; Lauschke, Volker M VM
Publication Date: 2018-10

Variant appearance in text: rs757862180
PubMed Link: 30076208
Variant Present in the following documents:
  • 10.1194_P086710_jlr.P086710-4.xlsx, sheet 1
View BVdb publication page



Are centenarians genetically predisposed to lower disease risk?

Age (Dordrecht, Netherlands)
Ruiz, Jonatan R JR; Fiuza-Luces, Carmen C; Buxens, Amaya A; Cano-Nieto, Amalia A; Gómez-Gallego, Félix F; Santiago, Catalina C; Rodríguez-Romo, Gabriel G; Garatachea, Nuria N; Lao, José I JI; Morán, María M; Lucia, Alejandro A
Publication Date: 2012-10

Variant appearance in text: APOB: Arg45Gln
PubMed Link: 21894447
Variant Present in the following documents:
  • Main text
View BVdb publication page