D816V 基因突变 KIT癌基因 - 癌症123

基因突变

KIT 突变位点基因序列 KIT D816V D816V是一种在急性髓细胞白血病（AML）中观察到的突变。这种变异与AML患者预后差和预后差有关。 KIT D816V is a mutation observed in acute myeloid leukemia (AML). This variant has been linked to poorer prognosis and worse outcome in AML patients.

别名

ASP816VAL,RS121913507
Allele Registry ID：CA123513
ClinVar ID：13852

突变位点

Ref. Build: GRCh37 Ensembl Version: 75

Chr.	Start	Stop	Ref. s	Var. Bases
4	55599321	55599321	A	T
Transcript
ENST00000288135.5

基因序列

NM_000222.2:c.2447A>003eT
NP_000213.1:p.Asp816Val
ENST00000288135.5:c.2447A>003eT
NC_000004.11:g.55599321A>003eT