NOTCH1 c.7458_7464del ;(p.Q2487Afs*100)

Variant ID: 9-139390726-TGTGCTGC-T

NM_017617.3(NOTCH1):c.7458_7464del;(p.Q2487Afs*100)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A Novel Assay for the Identification of NOTCH1 PEST Domain Mutations in Chronic Lymphocytic Leukemia.

Biomed Research International
Campregher, Paulo Vidal PV; Petroni, Roberta Cardoso RC; Muto, Nair Hideko NH; Sitnik, Roberta R; de Carvalho, Flavia Pereira FP; Bacal, Nydia Strachman NS; Velloso, Elvira Deolinda Rodrigues Pereira ED; Oliveira, Gislaine Borba GB; Pinho, João Renato Rebello JR; Torres, Davi Coe DC; Mansur, Marcela Braga MB; Hassan, Rocio R; Lorand-Metze, Irene Gyongyvér Heidemarie IG; Chiattone, Carlos Sérgio CS; Hamerschlak, Nelson N; Mangueira, Cristovão Luis Pitangueira CL
Publication Date: 2016

Variant appearance in text: NOTCH1: 7458_7464delGCAGCAC
PubMed Link: 28074183
Variant Present in the following documents:
  • Main text
View BVdb publication page