SF3B1 K666N

sf3b1 k666n是骨髓增生异常综合征、慢性白血病和最近的乳腺癌中发现的一种变体。这种体细胞突变与MDS患者更好的总体预后和无事件生存率有关。
SF3B1 K666N is a variant found in myelodysplastic syndromes, chronic leukemias, and more recently, breast cancer. This somatic mutation has been linked to better overall outcome and event-free survival in MDS patients.

别名

LYS666ASN,RS377023736
Allele Registry ID:CA280929
ClinVar ID:219098

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
2198267359198267359CA
Transcript
ENST00000335508.6

基因序列

NM_012433.3:c.1998G>003eT
NP_036565.2:p.Lys666Asn
ENST00000335508.6:c.1998G>003eT
NC_000002.11:g.198267359C>003eA