HR c.3214G>A ;(p.V1072M)

Variant ID: 8-21974552-C-T

NM_005144.4(HR):c.3214G>A;(p.V1072M)

This variant was identified in 2 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: HR: 3214G>A; Val1072Met
PubMed Link: 34324492
Variant Present in the following documents:
  • pgen.1009679.s019.xlsx, sheet 3
View BVdb publication page



Mutational patterns in chemotherapy resistant muscle-invasive bladder cancer.

Nature Communications
Liu, David D; Abbosh, Philip P; Keliher, Daniel D; Reardon, Brendan B; Miao, Diana D; Mouw, Kent K; Weiner-Taylor, Amaro A; Wankowicz, Stephanie S; Han, Garam G; Teo, Min Yuen MY; Cipolla, Catharine C; Kim, Jaegil J; Iyer, Gopa G; Al-Ahmadie, Hikmat H; Dulaimi, Essel E; Chen, David Y T DYT; Alpaugh, R Katherine RK; Hoffman-Censits, Jean J; Garraway, Levi A LA; Getz, Gad G; Carter, Scott L SL; Bellmunt, Joaquim J; Plimack, Elizabeth R ER; Rosenberg, Jonathan E JE; Van Allen, Eliezer M EM
Publication Date: 2017-12-19

Variant appearance in text: HR: V1072M
PubMed Link: 29259186
Variant Present in the following documents:
  • 41467_2017_2320_MOESM1_ESM.pdf
View BVdb publication page