NOTCH1 c.4099C>T ;(p.P1367S)

Variant ID: 9-139400249-G-A

NM_017617.3(NOTCH1):c.4099C>T;(p.P1367S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Diagnostic value of genetic mutation analysis and mutation profiling of cell-free DNA in intraocular fluid for vitreoretinal lymphoma.

Cancer Communications (London, England)
Chen, Xiaoqing X; Hu, Yunwei Y; Su, Wenru W; Yang, Shizhao S; Wang, Xiaoxiao X; Zhang, Ping P; Hong, Xiaoyu X; Liang, Chuqiao C; Qian, Zhuyun Z; Li, Ziqiang Z; Tao, Yong Y; Huang, Huiqiang H; Liang, Dan D
Publication Date: 2022-11

Variant appearance in text: NOTCH1: 4099C>T; P1367S
PubMed Link: 35920016
Variant Present in the following documents:
  • CAC2-42-1217-s001.xlsx, sheet 6
View BVdb publication page



A pilot study of the use of dynamic analysis of cell-free DNA from aqueous humor and vitreous fluid for the diagnosis and treatment monitoring of vitreoretinal lymphomas.

Haematologica
Wang, Xiaoxiao X; Su, Wenru W; Gao, Yan Y; Feng, Yanfen Y; Wang, Xiaoxia X; Chen, Xiaoqing X; Hu, Yunwei Y; Ma, Yutong Y; Ou, Qiuxiang Q; Liang, Dan D; Huang, Huiqiang H
Publication Date: 2022-09-01

Variant appearance in text: NOTCH1: 4099C>T; P1367S
PubMed Link: 35142151
Variant Present in the following documents:
  • 2021_279908_WANG_TABS3.xlsx, sheet 15
View BVdb publication page



Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: NOTCH1: P1367S
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
View BVdb publication page