Case Report
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
Table 1 Analysis of CSF3R gene mutations
Testing content
Exons 1-17 of CSF3R




Method
PCR & gene sequencing




GeneExon Variation typeVariation pointRemarks
ResultsCSF3R (NM_156039)1NoneNoneNone
2NoneNoneNone
3NoneNoneNone
4NoneNoneNone
5NoneNoneNone
6NoneNoneNone
7NoneNoneNone
8NoneNoneNone
9NoneNoneNone
10Synonymous mutationc.1260T>C (p.T420T)This mutation leads to premature termination of peptide synthesis
11NoneNoneNone
12NoneNoneNone
13NoneNoneNone
14Missense mutationc.1853C>T (p.T618I)This is a specific mutation of CNL and aCML, and it is a pathological mutation
15NoneNoneNone
16NoneNoneNone
17Nonsense mutationc.2514T>A (p.C838)This mutation leads to protein premature termination