NOTCH1 c.4914G>A ;(p.W1638*)

Variant ID: 9-139399229-C-T

NM_017617.3(NOTCH1):c.4914G>A;(p.W1638*)

This variant was identified in 4 publications

View GRCh38 version.




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: W1638X
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: W1638X
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Genomic characterization of early-stage esophageal squamous cell carcinoma in a Japanese population.

Oncotarget
Urabe, Yuji Y; Kagemoto, Kenichi K; Hayes, C Nelson CN; Nakamura, Koki K; Masuda, Kazuhiko K; Ono, Atsushi A; Tanaka, Shinji S; Arihiro, Koji K; Chayama, Kazuaki K
Publication Date: 2019-06-25

Variant appearance in text: NOTCH1: W1638*
PubMed Link: 31289612
Variant Present in the following documents:
  • oncotarget-10-4139-s001.pdf
View BVdb publication page



Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.

Circulation Research
Page, Donna J DJ; Miossec, Matthieu J MJ; Williams, Simon G SG; Monaghan, Richard M RM; Fotiou, Elisavet E; Cordell, Heather J HJ; Sutcliffe, Louise L; Topf, Ana A; Bourgey, Mathieu M; Bourque, Guillaume G; Eveleigh, Robert R; Dunwoodie, Sally L SL; Winlaw, David S DS; Bhattacharya, Shoumo S; Breckpot, Jeroen J; Devriendt, Koenraad K; Gewillig, Marc M; Brook, J David JD; Setchfield, Kerry J KJ; Bu'Lock, Frances A FA; O'Sullivan, John J; Stuart, Graham G; Bezzina, Connie R CR; Mulder, Barbara J M BJM; Postma, Alex V AV; Bentham, James R JR; Baron, Martin M; Bhaskar, Sanjeev S SS; Black, Graeme C GC; Newman, William G WG; Hentges, Kathryn E KE; Lathrop, G Mark GM; Santibanez-Koref, Mauro M; Keavney, Bernard D BD
Publication Date: 2019-02-15

Variant appearance in text: NOTCH1: W1638X
PubMed Link: 30582441
Variant Present in the following documents:
  • Main text
View BVdb publication page