Copyright
©The Author(s) 2020.
World J Clin Cases. Dec 26, 2020; 8(24): 6337-6345
Published online Dec 26, 2020. doi: 10.12998/wjcc.v8.i24.6337
Published online Dec 26, 2020. doi: 10.12998/wjcc.v8.i24.6337
Testing content | Exons 1-17 of CSF3R | ||||
Method | PCR & gene sequencing | ||||
Gene | Exon | Variation type | Variation point | Remarks | |
Results | CSF3R (NM_156039) | 1 | None | None | None |
2 | None | None | None | ||
3 | None | None | None | ||
4 | None | None | None | ||
5 | None | None | None | ||
6 | None | None | None | ||
7 | None | None | None | ||
8 | None | None | None | ||
9 | None | None | None | ||
10 | Synonymous mutation | c.1260T>C (p.T420T) | This mutation leads to premature termination of peptide synthesis | ||
11 | None | None | None | ||
12 | None | None | None | ||
13 | None | None | None | ||
14 | Missense mutation | c.1853C>T (p.T618I) | This is a specific mutation of CNL and aCML, and it is a pathological mutation | ||
15 | None | None | None | ||
16 | None | None | None | ||
17 | Nonsense mutation | c.2514T>A (p.C838) | This mutation leads to protein premature termination |
- Citation: Li YP, Chen N, Ye XM, Xia YS. Eighty-year-old man with rare chronic neutrophilic leukemia caused by CSF3R T618I mutation: A case report and review of literature. World J Clin Cases 2020; 8(24): 6337-6345
- URL: https://www.wjgnet.com/2307-8960/full/v8/i24/6337.htm
- DOI: https://dx.doi.org/10.12998/wjcc.v8.i24.6337