NOTCH1 c.2825G>A ;(p.C942Y)

Variant ID: 9-139404329-C-T

NM_017617.3(NOTCH1):c.2825G>A;(p.C942Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: NOTCH1: 2825G>A; Cys942Tyr
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Personalized oncogenomic analysis of metastatic adenoid cystic carcinoma: using whole-genome sequencing to inform clinical decision-making.

Cold Spring Harbor Molecular Case Studies
Chahal, Manik M; Pleasance, Erin E; Grewal, Jasleen J; Zhao, Eric E; Ng, Tony T; Chapman, Erin E; Jones, Martin R MR; Shen, Yaoqing Y; Mungall, Karen L KL; Bonakdar, Melika M; Taylor, Gregory A GA; Ma, Yussanne Y; Mungall, Andrew J AJ; Moore, Richard A RA; Lim, Howard H; Renouf, Daniel D; Yip, Stephen S; Jones, Steven J M SJM; Marra, Marco A MA; Laskin, Janessa J
Publication Date: 2018-04

Variant appearance in text: NOTCH1: C942Y
PubMed Link: 29610392
Variant Present in the following documents:
  • Main text
  • supp_mcs.a002626_Supplemental_Table_1.pdf
  • MCS002626Cha.pdf
View BVdb publication page