NOTCH1 c.2107C>T ;(p.R703C)

Variant ID: 9-139409062-G-A

NM_017617.3(NOTCH1):c.2107C>T;(p.R703C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Clonal hematopoiesis of indeterminate potential-related epigenetic age acceleration correlates with clonal hematopoiesis of indeterminate potential clone size in patients with high morbidity.

Haematologica
Feldkamp, Jasper David JD; Vetter, Valentin Max VM; Arends, Christopher Maximilian CM; Lang, Tonio Johannes Lukas TJL; Bullinger, Lars L; Damm, Frederik F; Demuth, Ilja I; Frick, Mareike M
Publication Date: 2022-07-01

Variant appearance in text: NOTCH1: 2107C>T
PubMed Link: 35236052
Variant Present in the following documents:
  • 2021_280021_FELDKAMP_SUPPL.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: R703C
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



New somatic mutations and WNK1-B4GALNT3 gene fusion in papillary thyroid carcinoma.

Oncotarget
Costa, Valerio V; Esposito, Roberta R; Ziviello, Carmela C; Sepe, Romina R; Bim, Larissa Valdemarin LV; Cacciola, Nunzio Antonio NA; Decaussin-Petrucci, Myriam M; Pallante, Pierlorenzo P; Fusco, Alfredo A; Ciccodicola, Alfredo A
Publication Date: 2015-05-10

Variant appearance in text: NOTCH1: R703C
PubMed Link: 25803323
Variant Present in the following documents:
  • Main text
View BVdb publication page