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NOTCH1 c.4915G>A ;(p.A1639T)
Variant ID: 9-139399228-C-T
NM_017617.3(
NOTCH1
):c.4915G>A;(p.A1639T)
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:
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Bmc Cancer
Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L
Publication Date: 2019-02-01
Variant appearance in text: NOTCH1: 4915G>A; A1639T
PubMed Link:
30709382
Variant Present in the following documents:
12885_2019_5313_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
Inactivation of Capicua in adult mice causes T-cell lymphoblastic lymphoma.
Genes & Development
Simón-Carrasco, Lucía L; Graña, Osvaldo O; Salmón, Marina M; Jacob, Harrys K C HKC; Gutierrez, Alejandro A; Jiménez, Gerardo G; Drosten, Matthias M; Barbacid, Mariano M
Publication Date: 2017-07-15
Variant appearance in text: NOTCH1: A1639T
PubMed Link:
28827401
Variant Present in the following documents:
Main text
View BVdb publication page
Tet2 loss leads to hypermutagenicity in haematopoietic stem/progenitor cells.
Nature Communications
Pan, Feng F; Wingo, Thomas S TS; Zhao, Zhigang Z; Gao, Rui R; Makishima, Hideki H; Qu, Guangbo G; Lin, Li L; Yu, Miao M; Ortega, Janice R JR; Wang, Jiapeng J; Nazha, Aziz A; Chen, Li L; Yao, Bing B; Liu, Can C; Chen, Shi S; Weeks, Ophelia O; Ni, Hongyu H; Phillips, Brittany Lynn BL; Huang, Suming S; Wang, Jianlong J; He, Chuan C; Li, Guo-Min GM; Radivoyevitch, Tomas T; Aifantis, Iannis I; Maciejewski, Jaroslaw P JP; Yang, Feng-Chun FC; Jin, Peng P; Xu, Mingjiang M
Publication Date: 2017-04-25
Variant appearance in text: NOTCH1: Ala1639Thr
PubMed Link:
28440315
Variant Present in the following documents:
ncomms15102.pdf
View BVdb publication page