NOTCH1 c.1195A>C ;(p.T399P)

Variant ID: 9-139412649-T-G

NM_017617.3(NOTCH1):c.1195A>C;(p.T399P)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: NOTCH1: 1195A>C; Thr399Pro
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s7.xlsx, sheet 9
View BVdb publication page



Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Nature Communications
Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Clark, Victoria E VE; Coşkun, Süleyman S; Henegariu, Octavian O; Duran, Daniel D; Erson-Omay, E Zeynep EZ; Kaulen, Leon D LD; Lee, Tong Ihn TI; Abraham, Brian J BJ; Simon, Matthias M; Krischek, Boris B; Timmer, Marco M; Goldbrunner, Roland R; Omay, S Bülent SB; Baranoski, Jacob J; Baran, Burçin B; Carrión-Grant, Geneive G; Bai, Hanwen H; Mishra-Gorur, Ketu K; Schramm, Johannes J; Moliterno, Jennifer J; Vortmeyer, Alexander O AO; Bilgüvar, Kaya K; Yasuno, Katsuhito K; Young, Richard A RA; Günel, Murat M
Publication Date: 2017-02-14

Variant appearance in text: NOTCH1: T399P
PubMed Link: 28195122
Variant Present in the following documents:
  • ncomms14433-s3.xlsx, sheet 3
View BVdb publication page



Longitudinal analysis of treatment-induced genomic alterations in gliomas.

Genome Medicine
Erson-Omay, E Zeynep EZ; Henegariu, Octavian O; Omay, S Bülent SB; Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Mishra-Gorur, Ketu K; Li, Jie J; Özduman, Koray K; Carrión-Grant, Geneive G; Clark, Victoria E VE; Çağlar, Caner C; Bakırcıoğlu, Mehmet M; Pamir, M Necmettin MN; Tabar, Viviane V; Vortmeyer, Alexander O AO; Bilguvar, Kaya K; Yasuno, Katsuhito K; DeAngelis, Lisa M LM; Baehring, Joachim M JM; Moliterno, Jennifer J; Günel, Murat M
Publication Date: 2017-02-02

Variant appearance in text: NOTCH1: T399P
PubMed Link: 28153049
Variant Present in the following documents:
  • 13073_2017_401_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Concurrent CIC mutations, IDH mutations, and 1p/19q loss distinguish oligodendrogliomas from other cancers.

The Journal Of Pathology
Yip, Stephen S; Butterfield, Yaron S YS; Morozova, Olena O; Chittaranjan, Suganthi S; Blough, Michael D MD; An, Jianghong J; Birol, Inanc I; Chesnelong, Charles C; Chiu, Readman R; Chuah, Eric E; Corbett, Richard R; Docking, Rod R; Firme, Marlo M; Hirst, Martin M; Jackman, Shaun S; Karsan, Aly A; Li, Haiyan H; Louis, David N DN; Maslova, Alexandra A; Moore, Richard R; Moradian, Annie A; Mungall, Karen L KL; Perizzolo, Marco M; Qian, Jenny J; Roldan, Gloria G; Smith, Eric E EE; Tamura-Wells, Jessica J; Thiessen, Nina N; Varhol, Richard R; Weiss, Samuel S; Wu, Wei W; Young, Sean S; Zhao, Yongjun Y; Mungall, Andrew J AJ; Jones, Steven J M SJ; Morin, Gregg B GB; Chan, Jennifer A JA; Cairncross, J Gregory JG; Marra, Marco A MA
Publication Date: 2012-01

Variant appearance in text: NOTCH1: T399P
PubMed Link: 22072542
Variant Present in the following documents:
  • Main text
View BVdb publication page