N2875H 基因突变 ATM癌基因 - 癌症123

基因突变

ATM 突变位点基因序列 ATM N2875H C端磷酸肌醇3激酶（PI3K）催化域的错义突变 A missense mutation within the C-terminal phosphoinositide 3-kinase (PI3K) catalytic domain

别名

ASN2875HIS,RS1057519869
Allele Registry ID：CA16602795
ClinVar ID：376353

突变位点

Ref. Build: GRCh37 Ensembl Version: 75

Chr.	Start	Stop	Ref. s	Var. Bases
11	108218044	108218044	A	C
Transcript
ENST00000278616.4

基因序列

ENST00000278616.4:c.8623A>003eC
NC_000011.9:g.108218044A>003eC
NM_000051.3:c.8623A>003eC
NP_000042.3:p.Asn2875His