NOTCH1 c.7508A>C ;(p.Q2503P)

Variant ID: 9-139390683-T-G

NM_017617.3(NOTCH1):c.7508A>C;(p.Q2503P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Diverse Resistance Mechanisms to the Third-Generation ALK Inhibitor Lorlatinib in ALK-Rearranged Lung Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Recondo, Gonzalo G; Mezquita, Laura L; Facchinetti, Francesco F; Planchard, David D; Gazzah, Anas A; Bigot, Ludovic L; Rizvi, Ahsan Z AZ; Frias, Rosa L RL; Thiery, Jean Paul JP; Scoazec, Jean-Yves JY; Sourisseau, Tony T; Howarth, Karen K; Deas, Olivier O; Samofalova, Dariia D; Galissant, Justine J; Tesson, Pauline P; Braye, Floriane F; Naltet, Charles C; Lavaud, Pernelle P; Mahjoubi, Linda L; Abou Lovergne, Aurélie A; Vassal, Gilles G; Bahleda, Rastilav R; Hollebecque, Antoine A; Nicotra, Claudio C; Ngo-Camus, Maud M; Michiels, Stefan S; Lacroix, Ludovic L; Richon, Catherine C; Auger, Nathalie N; De Baere, Thierry T; Tselikas, Lambros L; Solary, Eric E; Angevin, Eric E; Eggermont, Alexander M AM; Andre, Fabrice F; Massard, Christophe C; Olaussen, Ken A KA; Soria, Jean-Charles JC; Besse, Benjamin B; Friboulet, Luc L
Publication Date: 2020-01-01

Variant appearance in text: NOTCH1: Q2503P
PubMed Link: 31585938
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 7508A>C; Gln2503Pro
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s6.xlsx, sheet 9
View BVdb publication page