NPM1 W288FS

NPM1 w288fs(又名NPM1-A)位于NPM1外显子12,是急性髓性白血病中最常见的NPM1突变。这种突变导致NPM1(NPM1C)的细胞质定位,这与诱导治疗的良好反应有关。尽管它是研究最广泛的NPM1外显子12突变,但通常与其他外显子12突变一起分组进行患者分析(更多信息见NPM1外显子12突变)。
NPM1 W288fs (aka NPM1-A) is located in exon 12 of NPM1 and is the most common NPM1 mutation identified in acute myeloid leukemia. This mutation results in cytoplasmic localization of NPM1 (NPM1c) which is associated with a good response to induction therapy. Although it is the most extensively studied NPM1 exon 12 mutation, it is generally grouped with other exon 12 mutations for patient analysis (see NPM1 Exon 12 variants for more information).

别名

NPM1-A,RS587776806,TRP288FS
Allele Registry ID:CA280199
ClinVar ID:13998

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
5170837547170837548TCTG
Transcript
ENST00000517671.1

基因序列

NM_002520.6:c.860_863dupTCTG
NC_000005.9:g.170837544_170837547dupTCTG
NP_002511.1:p.Trp288Cysfs
ENST00000517671.1:c.860_863dupTCTG