NOTCH1 c.7457C>A ;(p.S2486*)

Variant ID: 9-139390734-G-T

NM_017617.3(NOTCH1):c.7457C>A;(p.S2486*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Prognostic correlation of NOTCH1 and SF3B1 mutations with chromosomal abnormalities in chronic lymphocytic leukemia patients.

Cancer Reports (Hoboken, N.J.)
Sadria, Reza R; Motamed, Nasrin N; Saberi Anvar, Mohammad M; Mehrabani Yeganeh, Hassan H; Poopak, Behzad B
Publication Date: 2022-11-21

Variant appearance in text: NOTCH1: S2486*
PubMed Link: 36411516
Variant Present in the following documents:
  • Main text
  • CNR2-6-e1757.pdf
View BVdb publication page



Targeted sequencing to identify genetic alterations and prognostic markers in pediatric T-cell acute lymphoblastic leukemia.

Scientific Reports
Chang, Ya-Hsuan YH; Yu, Chih-Hsiang CH; Jou, Shiann-Tarng ST; Lin, Chien-Yu CY; Lin, Kai-Hsin KH; Lu, Meng-Yao MY; Wu, Kang-Hsi KH; Chang, Hsiu-Hao HH; Lin, Dong-Tsamn DT; Lin, Shu-Wha SW; Chen, Hsuan-Yu HY; Yang, Yung-Li YL
Publication Date: 2021-01-12

Variant appearance in text: NOTCH1: S2486X
PubMed Link: 33436855
Variant Present in the following documents:
  • 41598_2020_80613_MOESM1_ESM.pdf
View BVdb publication page



NOTCH1 Aberrations in Chronic Lymphocytic Leukemia.

Frontiers In Oncology
Rosati, Emanuela E; Baldoni, Stefano S; De Falco, Filomena F; Del Papa, Beatrice B; Dorillo, Erica E; Rompietti, Chiara C; Albi, Elisa E; Falzetti, Franca F; Di Ianni, Mauro M; Sportoletti, Paolo P
Publication Date: 2018

Variant appearance in text: NOTCH1: S2486*
PubMed Link: 29998084
Variant Present in the following documents:
  • Main text
  • fonc-08-00229.pdf
View BVdb publication page