NOTCH1 c.6422C>A ;(p.S2141*)

Variant ID: 9-139391769-G-T

NM_017617.3(NOTCH1):c.6422C>A;(p.S2141*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Distinct mutational pattern of T-cell large granular lymphocyte leukemia combined with pure red cell aplasia: low mutational burden of STAT3.

Scientific Reports
Park, Sooyong S; Yun, Jiwon J; Choi, Sung Yoon SY; Jeong, Dajeong D; Gu, Ja-Yoon JY; Lee, Jee-Soo JS; Seong, Moon-Woo MW; Chang, Yoon Hwan YH; Yun, Hongseok H; Kim, Hyun Kyung HK
Publication Date: 2023-05-04

Variant appearance in text: NOTCH1: 6422C>A; Ser2141*
PubMed Link: 37142644
Variant Present in the following documents:
  • 41598_2023_33928_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Proposal and validation of a method to classify genetic subtypes of diffuse large B cell lymphoma.

Scientific Reports
Pedrosa, Lucía L; Fernández-Miranda, Ismael I; Pérez-Callejo, David D; Quero, Cristina C; Rodríguez, Marta M; Martín-Acosta, Paloma P; Gómez, Sagrario S; González-Rincón, Julia J; Santos, Adrián A; Tarin, Carlos C; García, Juan F JF; García-Arroyo, Francisco R FR; Rueda, Antonio A; Camacho, Francisca I FI; García-Cosío, Mónica M; Heredero, Ana A; Llanos, Marta M; Mollejo, Manuela M; Piris-Villaespesa, Miguel M; Gómez-Codina, José J; Yanguas-Casás, Natalia N; Sánchez, Antonio A; Piris, Miguel A MA; Provencio, Mariano M; Sánchez-Beato, Margarita M
Publication Date: 2021-01-21

Variant appearance in text: NOTCH1: S2141*
PubMed Link: 33479306
Variant Present in the following documents:
  • 41598_2020_80376_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



A Targeted Gene Panel for Circulating Tumor DNA Sequencing in Neuroblastoma.

Frontiers In Oncology
Cimmino, Flora F; Lasorsa, Vito Alessandro VA; Vetrella, Simona S; Iolascon, Achille A; Capasso, Mario M
Publication Date: 2020

Variant appearance in text: NOTCH1: S2141X
PubMed Link: 33381456
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 3
View BVdb publication page