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NOTCH1 c.1220C>A ;(p.P407Q)
Variant ID: 9-139412624-G-T
NM_017617.3(
NOTCH1
):c.1220C>A;(p.P407Q)
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:
Genetic insights into non-syndromic Tetralogy of Fallot.
Frontiers In Physiology
Althali, Nouf J NJ; Hentges, Kathryn E KE
Publication Date: 2022
Variant appearance in text: NOTCH1: 1220C>A; P407Q
PubMed Link:
36277185
Variant Present in the following documents:
Main text
fphys-13-1012665.pdf
View BVdb publication page
Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.
Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01
Variant appearance in text: NOTCH1: P407Q
PubMed Link:
33795819
Variant Present in the following documents:
42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page
Multiple gene variations contributed to congenital heart disease via GATA family transcriptional regulation.
Journal Of Translational Medicine
Qian, Yanyan Y; Xiao, Deyong D; Guo, Xiao X; Chen, Hongbo H; Hao, Lili L; Ma, Xiaojing X; Huang, Guoying G; Ma, Duan D; Wang, Huijun H
Publication Date: 2017-04-03
Variant appearance in text: NOTCH1: 1220C>A; P407Q
PubMed Link:
28372585
Variant Present in the following documents:
Main text
View BVdb publication page