Bibliome.ai browser hg19
Search
About
Stats
FAQ
ATM c.1375C>G ;(p.L459V)
Variant ID: 11-108121567-C-G
NM_000051.3(
ATM
):c.1375C>G;(p.L459V)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: ATM: 1375C>G; L459V
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
KRAS mutation is predictive of outcome in patients with pulmonary sarcomatoid carcinoma.
Histopathology
Mehrad, Mitra M; Roy, Somak S; LaFramboise, William A WA; Petrosko, Patti P; Miller, Caitlyn C; Incharoen, Pimpin P; Dacic, Sanja S
Publication Date: 2018-08
Variant appearance in text: ATM: L459V
PubMed Link:
29489023
Variant Present in the following documents:
Main text
View BVdb publication page