NOTCH1 c.2079C>A ;(p.C693*)

Variant ID: 9-139409090-G-T

NM_017617.3(NOTCH1):c.2079C>A;(p.C693*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Bmc Medical Genomics
Miller, Eirwen M EM; Patterson, Nicole E NE; Gressel, Gregory M GM; Karabakhtsian, Rouzan G RG; Bejerano-Sagie, Michal M; Ravi, Nivedita N; Maslov, Alexander A; Quispe-Tintaya, Wilber W; Wang, Tao T; Lin, Juan J; Smith, Harriet O HO; Goldberg, Gary L GL; Kuo, Dennis Y S DYS; Montagna, Cristina C
Publication Date: 2020-11-30

Variant appearance in text: NOTCH1: C693*
PubMed Link: 33256706
Variant Present in the following documents:
  • 12920_2020_824_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Somatic mutations in the Notch, NF-KB, PIK3CA, and Hedgehog pathways in human breast cancers.

Genes, Chromosomes & Cancer
Jiao, Xiang X; Wood, Laura D LD; Lindman, Monica M; Jones, Sian S; Buckhaults, Phillip P; Polyak, Kornelia K; Sukumar, Saraswati S; Carter, Hannah H; Kim, Dewey D; Karchin, Rachel R; Sjöblom, Tobias T
Publication Date: 2012-05

Variant appearance in text: NOTCH1: 2079C>A; C693X
PubMed Link: 22302350
Variant Present in the following documents:
  • Main text
View BVdb publication page