R113* (c.337C>003eT) 基因突变 VHL癌基因 - 癌症123

基因突变

VHL 突变位点基因序列 VHL R113* (c.337C>003eT)

别名

C.337C>003eT,R113X,ARG113TER,RS5030810
Allele Registry ID：CA348491
ClinVar ID：220414

突变位点

Ref. Build: GRCh37 Ensembl Version: 75

Chr.	Start	Stop	Ref. s	Var. Bases
3	10183868	10183868	C	T
Transcript
ENST00000

基因序列

NM_000551.3:c.337C>003eT
NP_000542.1:p.Arg113Ter
NC_000003.11:g.10183868C>003eT
ENST00000256474.2:c.337C>003eT