NOTCH1 c.785del ;(p.P262Qfs*15)

Variant ID: 9-139413974-TG-T

NM_017617.3(NOTCH1):c.785del;(p.P262Qfs*15)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Metastatic pediatric sclerosing epithelioid fibrosarcoma.

Cold Spring Harbor Molecular Case Studies
Woods, Andrew D AD; Purohit, Reshma R; Mitchell, Laura Crocker LC; Collier, John R JR; Collier, Katherine A KA; Lathara, Melvin M; Learned, Katrina K; Vaske, Olena O; Geiger, Heather H; Wrzeszczynski, Kazimierz O KO; Jobanputra, Vaidehi V; Srinivasa, Ganapati G; Rudzinski, Erin R ER; Whelan, Kimberly K; Beierle, Elizabeth E; Spunt, Sheri L SL; Keller, Charles C; Wadhwa, Aman A
Publication Date: 2021-10

Variant appearance in text: NOTCH1: 785delC; Pro262fs
PubMed Link: 34362827
Variant Present in the following documents:
  • Main text
  • MCS006093Woo.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: 785delC; P262fs
PubMed Link: 30087429
Variant Present in the following documents:
  • 41598_2018_30330_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page