NPM1 W288FSNPM1 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)。 |
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别名
突变位点
Ref. Build: GRCh37 Ensembl Version: 75
Chr. | Start | Stop | Ref. s | Var. Bases |
5 | 170837547 | 170837548 | TCTG | |
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
NC_000005.9:g.170837544_170837547dupTCTG
NP_002511.1:p.Trp288Cysfs
ENST00000517671.1:c.860_863dupTCTG