NOTCH1 c.4915G>A ;(p.A1639T)

Variant ID: 9-139399228-C-T

NM_017617.3(NOTCH1):c.4915G>A;(p.A1639T)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer
Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L
Publication Date: 2019-02-01

Variant appearance in text: NOTCH1: 4915G>A; A1639T
PubMed Link: 30709382
Variant Present in the following documents:
  • 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Inactivation of Capicua in adult mice causes T-cell lymphoblastic lymphoma.

Genes & Development
Simón-Carrasco, Lucía L; Graña, Osvaldo O; Salmón, Marina M; Jacob, Harrys K C HKC; Gutierrez, Alejandro A; Jiménez, Gerardo G; Drosten, Matthias M; Barbacid, Mariano M
Publication Date: 2017-07-15

Variant appearance in text: NOTCH1: A1639T
PubMed Link: 28827401
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tet2 loss leads to hypermutagenicity in haematopoietic stem/progenitor cells.

Nature Communications
Pan, Feng F; Wingo, Thomas S TS; Zhao, Zhigang Z; Gao, Rui R; Makishima, Hideki H; Qu, Guangbo G; Lin, Li L; Yu, Miao M; Ortega, Janice R JR; Wang, Jiapeng J; Nazha, Aziz A; Chen, Li L; Yao, Bing B; Liu, Can C; Chen, Shi S; Weeks, Ophelia O; Ni, Hongyu H; Phillips, Brittany Lynn BL; Huang, Suming S; Wang, Jianlong J; He, Chuan C; Li, Guo-Min GM; Radivoyevitch, Tomas T; Aifantis, Iannis I; Maciejewski, Jaroslaw P JP; Yang, Feng-Chun FC; Jin, Peng P; Xu, Mingjiang M
Publication Date: 2017-04-25

Variant appearance in text: NOTCH1: Ala1639Thr
PubMed Link: 28440315
Variant Present in the following documents:
  • ncomms15102.pdf
View BVdb publication page