NOTCH1 c.3428A>G ;(p.E1143G)

Variant ID: 9-139402489-T-C

NM_017617.3(NOTCH1):c.3428A>G;(p.E1143G)

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: NOTCH1: 3428A>G
PubMed Link: 34324492
Variant Present in the following documents:
  • pgen.1009679.s019.xlsx, sheet 3
View BVdb publication page



The pregnancy-associated spontaneous coronary artery dissection in a young woman with a novel missense mutation in NOTCH1: a case report.

Bmc Medical Genetics
Bai, Bo B; Zhang, Meng M; Zhuang, Yihao Y; Zhu, Jirong J; Li, Wenjing W; Ma, Wei W; Chen, Haibo H
Publication Date: 2020-06-01

Variant appearance in text: NOTCH1: Glu1143Gly
PubMed Link: 32487031
Variant Present in the following documents:
  • Main text
  • 12881_2020_Article_1058.pdf
View BVdb publication page