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NOTCH1 c.1269C>G ;(p.C423W)
Variant ID: 9-139412376-G-C
NM_017617.3(
NOTCH1
):c.1269C>G;(p.C423W)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors.
Npj Precision Oncology
Bonner, Erin R ER; Harrington, Robin R; Eze, Augustine A; Bornhorst, Miriam M; Kline, Cassie N CN; Gordish-Dressman, Heather H; Dawood, Adam A; Das, Biswajit B; Chen, Li L; Pauly, Rini R; Williams, P Mickey PM; Karlovich, Chris C; Peach, Amanda A; Howell, D'andra D; Doroshow, James J; Kilburn, Lindsay L; Packer, Roger J RJ; Mueller, Sabine S; Nazarian, Javad J
Publication Date: 2022-09-06
Variant appearance in text: NOTCH1: 1269C>G; C423W
PubMed Link:
36068285
Variant Present in the following documents:
41698_2022_306_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page
Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.
Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04
Variant appearance in text: NOTCH1: 1269C>G; C423W
PubMed Link:
33397889
Variant Present in the following documents:
41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page
Frequency and distribution of Notch mutations in tumor cell lines.
Bmc Cancer
Mutvei, Anders Peter AP; Fredlund, Erik E; Lendahl, Urban U
Publication Date: 2015-04-25
Variant appearance in text: NOTCH1: 1269C>G; C423W
PubMed Link:
25907971
Variant Present in the following documents:
12885_2015_1278_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page