NOTCH1 c.7183C>T ;(p.Q2395*)

Variant ID: 9-139391008-G-A

NM_017617.3(NOTCH1):c.7183C>T;(p.Q2395*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


High Incidence of C797S Mutation in Patients With Long Treatment History of EGFR Tyrosine Kinase Inhibitors Including Osimertinib.

Jto Clinical And Research Reports
Osoegawa, Atsushi A; Yamaguchi, Masafumi M; Nakamura, Tomomi T; Morinaga, Ryotaro R; Tanaka, Kentaro K; Kashiwabara, Kosuke K; Miura, Takashi T; Suetsugu, Takayuki T; Harada, Taishi T; Asoh, Tatsuma T; Taguchi, Kenichi K; Nabeshima, Kazuki K; Kishimoto, Junji J; Sakai, Kazuko K; Nishio, Kazuto K; Sugio, Kenji K
Publication Date: 2021-07

Variant appearance in text: NOTCH1: 7183C>T; Gln2395Ter
PubMed Link: 34590037
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Retrospective analyses of other iatrogenic immunodeficiency-associated lymphoproliferative disorders in patients with rheumatic diseases.

British Journal Of Haematology
Kaji, Daisuke D; Kusakabe, Manabu M; Sakata-Yanagimoto, Mamiko M; Makishima, Kenichi K; Suehara, Yasuhito Y; Hattori, Keiichiro K; Ota, Yasunori Y; Mitsuki, Takashi T; Yuasa, Mitsuhiro M; Kageyama, Kosei K; Taya, Yuki Y; Nishida, Aya A; Ishiwata, Kazuya K; Takagi, Shinsuke S; Yamamoto, Hisashi H; Asano-Mori, Yuki Y; Ubara, Yoshifumi Y; Izutsu, Koji K; Uchida, Naoyuki N; Wake, Atsushi A; Taniguchi, Shuichi S; Yamamoto, Go G; Chiba, Shigeru S
Publication Date: 2021-11

Variant appearance in text: NOTCH1: Q2395X
PubMed Link: 34558064
Variant Present in the following documents:
  • BJH-195-585-s002.xlsx, sheet 9
View BVdb publication page



NOTCH1 Aberrations in Chronic Lymphocytic Leukemia.

Frontiers In Oncology
Rosati, Emanuela E; Baldoni, Stefano S; De Falco, Filomena F; Del Papa, Beatrice B; Dorillo, Erica E; Rompietti, Chiara C; Albi, Elisa E; Falzetti, Franca F; Di Ianni, Mauro M; Sportoletti, Paolo P
Publication Date: 2018

Variant appearance in text: NOTCH1: Q2395*
PubMed Link: 29998084
Variant Present in the following documents:
  • Main text
View BVdb publication page