ATR I774FS

ATR第10外显子10a单核苷酸的插入或缺失导致密码子I774的移码。在子宫内膜癌患者中,这种突变仅在微卫星不稳定患者中观察到。
Single A insertion or deletion in the 10 A mononucleotide run in exon 10 of ATR results in a frameshift of codon I774. In patients with endometrial cancer, this mutation has only been observed in patients with microsatellite instability.

别名


Allele Registry ID:
ClinVar ID:

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
3142274740142274740
Transcript
ENST00000350721.4

基因序列

NC_000003.11:g.142274740del