NOTCH1
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @rossiCodingGenomeSplenic2012, @loveGeneticLandscapeMutations2012,
[[TOC]]
The relevance of NOTCH1 mutations in various malignancies has been well established. However, due to minimal support in the original primary data and very few mutations reported in subsequent BL studies, this gene is very unlikely to be relevant in BL.
Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a gain of function (GOF).[@ryanCellRegulomeLinks2017]
include:tables/table1_NOTCH1.md
<<Warn("The variants reported in this gene in BL failed QC")>>
include:tables/DLBCL_NOTCH1.md
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr9 | 139401207 | C>T | V1288I |
| chr9 | 139401199 | G>C | D1290E |
include:tables/browser_NOTCH1.md
Rating
★ ☆ ☆ ☆ ☆
Disclaimer
The content in these pages has been populated, in part, by an automated process. Although we have scrutinized every page to ensure accuracy, errors will inevitably exist. If you find an error please report it as an issue and we will address it.
In particular, let us know if you feel that an important citation is missing or if a paper has been cited incorrectly.
License
This work is licensed under a Creative Commons Attribution 4.0 International License.
You are free to:
Share — copy and redistribute the material in any medium or format for any purpose, even commercially.
Adapt — remix, transform, and build upon the material for any purpose, even commercially. The licensor cannot revoke these freedoms as long as you follow the license terms.