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NOTCH1 c.53C>A ;(p.A18D)
Variant ID: 9-139440186-G-T
NM_017617.3(
NOTCH1
):c.53C>A;(p.A18D)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.
Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01
Variant appearance in text: NOTCH1: A18D
PubMed Link:
34963661
Variant Present in the following documents:
supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page
Impact of PTEN abnormalities on outcome in pediatric patients with T-cell acute lymphoblastic leukemia treated on the MRC UKALL2003 trial.
Leukemia
Jenkinson, S S; Kirkwood, A A AA; Goulden, N N; Vora, A A; Linch, D C DC; Gale, R E RE
Publication Date: 2016-01
Variant appearance in text: NOTCH1: A18D
PubMed Link:
26220040
Variant Present in the following documents:
Main text
leu2015206a.pdf
View BVdb publication page