IDH2 R172K

在一些血液学恶性肿瘤中观察到IDH2突变。在急性髓系白血病中,与IDH2野生型患者相比,R172K突变与较差的预后和较差的总生存率有关。然而,在骨髓置换综合征中,研究没有发现这种变异与患者结局之间的预后关联。
IDH2 mutations have been observed in a number of hematologic malignancies. In acute myeloid leukemia, the R172K mutation has been linked with poorer prognosis and worse overall survival than IDH2 wild-type patients. However, in myelodisplastic syndromes, studies did not find a prognostic association between this variant and patient outcomes.

别名

ARG172LYS,R120K,RS121913503
Allele Registry ID:CA16602462
ClinVar ID:375987

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
159063183890631838CT
Transcript
ENST00000330062.3

基因序列

NC_000015.9:g.90631838C>003eT
NM_002168.3:c.515G>003eA
NP_002159.2:p.Arg172Lys
ENST00000330062.3:c.515G>003eA