NOTCH1 c.16G>A ;(p.A6T)

Variant ID: 9-139440223-C-T

NM_017617.3(NOTCH1):c.16G>A;(p.A6T)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification of novel, clonally stable, somatic mutations targeting transcription factors PAX5 and NKX2-3, the epigenetic regulator LRIF1, and BRAF in a case of atypical B-cell chronic lymphocytic leukemia harboring a t(14;18)(q32;q21).

Cold Spring Harbor Molecular Case Studies
Burlet, Bénédicte B; Ramla, Selim S; Fournier, Cyril C; Abrey-Recalde, Maria Jimena MJ; Sauter, Camille C; Chrétien, Marie-Lorraine ML; Rossi, Cédric C; Duffourd, Yannis Y; Ragot, Sylviane S; Buriller, Céline C; Tournier, Benjamin B; Chapusot, Caroline C; Nadal, Nathalie N; Racine, Jessica J; Guy, Julien J; Bailly, François F; Martin, Laurent L; Casasnovas, Olivier O; Bastie, Jean-Noël JN; Caillot, Denis D; Albuisson, Juliette J; Broccardo, Cyril C; Thieblemont, Catherine C; Delva, Laurent L; Maynadié, Marc M; Aucagne, Romain R; Callanan, Mary B MB
Publication Date: 2021-02

Variant appearance in text: NOTCH1: A6T
PubMed Link: 33608382
Variant Present in the following documents:
  • Main text
  • MCS005934Bur.pdf
View BVdb publication page