NOTCH1 c.4783G>T ;(p.E1595*)

Variant ID: 9-139399360-C-A

NM_017617.3(NOTCH1):c.4783G>T;(p.E1595*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Personalized Medicine in the Oncology Clinic: Implementation and Outcomes of the Johns Hopkins Molecular Tumor Board.

Jco Precision Oncology
Dalton, W Brian WB; Forde, Patrick M PM; Kang, Hyunseok H; Connolly, Roisin M RM; Stearns, Vered V; Gocke, Christopher D CD; Eshleman, James R JR; Axilbund, Jennifer J; Petry, Dana D; Geoghegan, Cindy C; Wolff, Antonio C AC; Loeb, David M DM; Pratilas, Christine A CA; Meyer, Christian F CF; Christenson, Eric S ES; Slater, Shannon A SA; Ensminger, Jennifer J; Parsons, Heather A HA; Park, Ben H BH; Lauring, Josh J
Publication Date: 2017

Variant appearance in text: NOTCH1: E1595*
PubMed Link: 30003184
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutational landscapes of tongue carcinoma reveal recurrent mutations in genes of therapeutic and prognostic relevance.

Genome Medicine
Vettore, Andre Luiz AL; Ramnarayanan, Kalpana K; Poore, Gregory G; Lim, Kevin K; Ong, Choon Kiat CK; Huang, Kie Kyon KK; Leong, Hui Sun HS; Chong, Fui Teen FT; Lim, Tony Kiat-Hon TK; Lim, Weng Khong WK; Cutcutache, Ioana I; Mcpherson, John R JR; Suzuki, Yuka Y; Zhang, Shenli S; Skanthakumar, Thakshayeni T; Wang, Weining W; Tan, Daniel S W DS; Cho, Byoung Chul BC; Teh, Bin Tean BT; Rozen, Steve S; Tan, Patrick P; Iyer, N Gopalakrishna NG
Publication Date: 2015-09-23

Variant appearance in text: NOTCH1: E1595X
PubMed Link: 26395002
Variant Present in the following documents:
  • 13073_2015_219_MOESM12_ESM.xls, sheet 1
View BVdb publication page