S65* (c.194C>003eA) 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 S65* (c.194C>003eA)

别名

C.194C>003eA,S65X,SER65TER,RS5030826
Allele Registry ID：CA357085
ClinVar ID：223161

突变位点

Ref. Build: GRCh37 Ensembl Version: 75

Chr.	Start	Stop	Ref. s	Var. Bases
3	10183725	10183725	C	A
Transcript
ENST

基因序列

NM_000551.3:c.194C>003eA
NP_000542.1:p.Ser65Ter
NC_000003.11:g.10183725C>003eA
ENST00000256474.2:c.194C>003eA