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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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