NOTCH1 c.7470C>G ;(p.Y2490*)

Variant ID: 9-139390721-G-C

NM_017617.3(NOTCH1):c.7470C>G;(p.Y2490*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


<i>SF3B1</i>-mutated chronic lymphocytic leukemia shows evidence of NOTCH1 pathway activation including CD20 downregulation

Haematologica
Pozzo, Federico F; Bittolo, Tamara T; Tissino, Erika E; Vit, Filippo F; Vendramini, Elena E; Laurenti, Luca L; D'Arena, Giovanni G; Olivieri, Jacopo J; Pozzato, Gabriele G; Zaja, Francesco F; Chiarenza, Annalisa A; Di Raimondo, Francesco F; Zucchetto, Antonella A; Bomben, Riccardo R; Rossi, Francesca Maria FM; Del Poeta, Giovanni G; Dal Bo, Michele M; Gattei, Valter V
Publication Date: 2021-12-01

Variant appearance in text: NOTCH1: Y2490*
PubMed Link: 33121237
Variant Present in the following documents:
  • 2020_261891_POZZO_SUPPL.pdf
View BVdb publication page



Design and MinION testing of a nanopore targeted gene sequencing panel for chronic lymphocytic leukemia.

Scientific Reports
Orsini, Paola P; Minervini, Crescenzio F CF; Cumbo, Cosimo C; Anelli, Luisa L; Zagaria, Antonella A; Minervini, Angela A; Coccaro, Nicoletta N; Tota, Giuseppina G; Casieri, Paola P; Impera, Luciana L; Parciante, Elisa E; Brunetti, Claudia C; Giordano, Annamaria A; Specchia, Giorgina G; Albano, Francesco F
Publication Date: 2018-08-07

Variant appearance in text: NOTCH1: Y2490X
PubMed Link: 30087429
Variant Present in the following documents:
  • Main text
  • 41598_2018_30330_MOESM4_ESM.xlsx, sheet 1
  • 41598_2018_Article_30330.pdf
View BVdb publication page



Identification of a genetically defined ultra-high-risk group in relapsed pediatric T-lymphoblastic leukemia.

Blood Cancer Journal
Richter-PechaƄska, P P; Kunz, J B JB; Hof, J J; Zimmermann, M M; Rausch, T T; Bandapalli, O R OR; Orlova, E E; Scapinello, G G; Sagi, J C JC; Stanulla, M M; Schrappe, M M; Cario, G G; Kirschner-Schwabe, R R; Eckert, C C; Benes, V V; Korbel, J O JO; Muckenthaler, M U MU; Kulozik, A E AE
Publication Date: 2017-02-03

Variant appearance in text: NOTCH1: Y2490X
PubMed Link: 28157215
Variant Present in the following documents:
  • bcj20173x11.xlsx, sheet 1
View BVdb publication page