NOTCH1 c.7444_7445delinsTA ;(p.L2482*)

Variant ID: 9-139390746-AG-TA

NM_017617.3(NOTCH1):c.7444_7445delinsTA;(p.L2482*)

This variant was identified in 2 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: L2482*
PubMed Link: 33121237
Variant Present in the following documents:
  • 2020_261891_POZZO_SUPPL.pdf
View BVdb publication page



Clinical significance of TP53, BIRC3, ATM and MAPK-ERK genes in chronic lymphocytic leukaemia: data from the randomised UK LRF CLL4 trial.

Leukemia
Blakemore, Stuart J SJ; Clifford, Ruth R; Parker, Helen H; Antoniou, Pavlos P; Stec-Dziedzic, Ewa E; Larrayoz, Marta M; Davis, Zadie Z; Kadalyayil, Latha L; Colins, Andrew A; Robbe, Pauline P; Vavoulis, Dimitris D; Forster, Jade J; Carr, Louise L; Morilla, Ricardo R; Else, Monica M; Bryant, Dean D; McCarthy, Helen H; Walewska, Renata J RJ; Steele, Andrew J AJ; Chan, Jacqueline J; Speight, Graham G; Stankovic, Tanja T; Cragg, Mark S MS; Catovsky, Daniel D; Oscier, David G DG; Rose-Zerilli, Matthew J J MJJ; Schuh, Anna A; Strefford, Jonathan C JC
Publication Date: 2020-07

Variant appearance in text: NOTCH1: L2482X
PubMed Link: 32015491
Variant Present in the following documents:
  • 41375_2020_723_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page