NOTCH1 c.4416C>G ;(p.C1472W)

Variant ID: 9-139399932-G-C

NM_017617.3(NOTCH1):c.4416C>G;(p.C1472W)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Efficacy of immunotherapy in lung cancer with co-occurring mutations in NOTCH and homologous repair genes.

Journal For Immunotherapy Of Cancer
Mazzotta, Marco M; Filetti, Marco M; Occhipinti, Mario M; Marinelli, Daniele D; Scalera, Stefano S; Terrenato, Irene I; Sperati, Francesca F; Pallocca, Matteo M; Rizzo, Francesco F; Gelibter, Alain A; Botticelli, Andrea A; Scafetta, Giorgia G; Di Napoli, Arianna A; Krasniqi, Eriseld E; Pizzuti, Laura L; Barba, Maddalena M; Carpano, Silvia S; Vici, Patrizia P; Fanciulli, Maurizio M; De Nicola, Francesca F; Ciuffreda, Ludovica L; Goeman, Frauke F; De Maria, Ruggero R; Vecchione, Andrea A; Giusti, Raffaele R; Ciliberto, Gennaro G; Marchetti, Paolo P; Maugeri-SaccĂ , Marcello M
Publication Date: 2020-08

Variant appearance in text: NOTCH1: C1472W
PubMed Link: 32759236
Variant Present in the following documents:
  • jitc-2020-000946supp001.xlsx, sheet 1
View BVdb publication page



Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants.

Human Molecular Genetics
Chapman, Gavin G; Moreau, Julie L M JLM; I P, Eddie E; Szot, Justin O JO; Iyer, Kavitha R KR; Shi, Hongjun H; Yam, Michelle X MX; O'Reilly, Victoria C VC; Enriquez, Annabelle A; Greasby, Joelene A JA; Alankarage, Dimuthu D; Martin, Ella M M A EMMA; Hanna, Bernadette C BC; Edwards, Matthew M; Monger, Steven S; Blue, Gillian M GM; Winlaw, David S DS; Ritchie, Helen E HE; Grieve, Stuart M SM; Giannoulatou, Eleni E; Sparrow, Duncan B DB; Dunwoodie, Sally L SL
Publication Date: 2020-03-13

Variant appearance in text: NOTCH1: 4416C>G; C1472W
PubMed Link: 31813956
Variant Present in the following documents:
  • Main text
View BVdb publication page