NOTCH1 c.5105T>C ;(p.F1702S)

Variant ID: 9-139397696-A-G

NM_017617.3(NOTCH1):c.5105T>C;(p.F1702S)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.

Nature Communications
Liu, Ting T; Rao, Jianan J; Hu, Wenting W; Cui, Bowen B; Cai, Jiaoyang J; Liu, Yuhan Y; Sun, Huiying H; Chen, Xiaoxiao X; Tang, Yanjing Y; Chen, Jing J; Wang, Xiang X; Wang, Han H; Qian, Wubin W; Mao, Binchen B; Guo, Sheng S; Wang, Ronghua R; Liu, Yu Y; Shen, Shuhong S
Publication Date: 2022-03-28

Variant appearance in text: NOTCH1: F1702S
PubMed Link: 35347147
Variant Present in the following documents:
  • 41467_2022_29336_MOESM8_ESM.xlsx, sheet 1
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Targeted sequencing to identify genetic alterations and prognostic markers in pediatric T-cell acute lymphoblastic leukemia.

Scientific Reports
Chang, Ya-Hsuan YH; Yu, Chih-Hsiang CH; Jou, Shiann-Tarng ST; Lin, Chien-Yu CY; Lin, Kai-Hsin KH; Lu, Meng-Yao MY; Wu, Kang-Hsi KH; Chang, Hsiu-Hao HH; Lin, Dong-Tsamn DT; Lin, Shu-Wha SW; Chen, Hsuan-Yu HY; Yang, Yung-Li YL
Publication Date: 2021-01-12

Variant appearance in text: NOTCH1: F1702S
PubMed Link: 33436855
Variant Present in the following documents:
  • 41598_2020_80613_MOESM1_ESM.pdf
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Activating NOTCH1 Mutations Define a Distinct Subgroup of Patients With Adenoid Cystic Carcinoma Who Have Poor Prognosis, Propensity to Bone and Liver Metastasis, and Potential Responsiveness to Notch1 Inhibitors.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Ferrarotto, Renata R; Mitani, Yoshitsugu Y; Diao, Lixia L; Guijarro, Irene I; Wang, Jing J; Zweidler-McKay, Patrick P; Bell, Diana D; William, William N WN; Glisson, Bonnie S BS; Wick, Michael J MJ; Kapoun, Ann M AM; Patnaik, Amita A; Eckhardt, Gail G; Munster, Pamela P; Faoro, Leonardo L; Dupont, Jakob J; Lee, J Jack JJ; Futreal, Andrew A; El-Naggar, Adel K AK; Heymach, John V JV
Publication Date: 2017-01-20

Variant appearance in text: NOTCH1: F1702S
PubMed Link: 27870570
Variant Present in the following documents:
  • JCO.2016.67.5264.pdf
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Whole exome sequencing of adenoid cystic carcinoma.

The Journal Of Clinical Investigation
Stephens, Philip J PJ; Davies, Helen R HR; Mitani, Yoshitsugu Y; Van Loo, Peter P; Shlien, Adam A; Tarpey, Patrick S PS; Papaemmanuil, Elli E; Cheverton, Angela A; Bignell, Graham R GR; Butler, Adam P AP; Gamble, John J; Gamble, Stephen S; Hardy, Claire C; Hinton, Jonathan J; Jia, Mingming M; Jayakumar, Alagu A; Jones, David D; Latimer, Calli C; McLaren, Stuart S; McBride, David J DJ; Menzies, Andrew A; Mudie, Laura L; Maddison, Mark M; Raine, Keiran K; Nik-Zainal, Serena S; O'Meara, Sarah S; Teague, Jon W JW; Varela, Ignacio I; Wedge, David C DC; Whitmore, Ian I; Lippman, Scott M SM; McDermott, Ultan U; Stratton, Michael R MR; Campbell, Peter J PJ; El-Naggar, Adel K AK; Futreal, P Andrew PA
Publication Date: 2013-07

Variant appearance in text: NOTCH1: F1702S
PubMed Link: 23778141
Variant Present in the following documents:
  • Main text
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