V84L (c.250G>003eC) 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 V84L (c.250G>003eC)

别名

VAL84LEU,C.250G>003eC,RS5030827
Allele Registry ID：CA10578180
ClinVar ID：229860

突变位点

Ref. Build: GRCh37 Ensembl Version: 75

Chr.	Start	Stop	Ref. s	Var. Bases
3	10183781	10183781	G	C
Transcript
ENST

基因序列

NP_000542.1:p.Val84Leu
NM_000551.3:c.250G>003eC
NC_000003.11:g.10183781G>003eC
ENST00000256474.2:c.250G>003eC