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ATM c.713T>C ;(p.I238T)
Variant ID: 11-108115565-T-C
NM_000051.3(
ATM
):c.713T>C;(p.I238T)
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:
Utilisation of semiconductor sequencing for the detection of predictive biomarkers in glioblastoma.
Plos One
Williams, Gareth G; Llewelyn, Alexander A; Thatcher, Robert R; Hardisty, Keeda-Marie KM; Loddo, Marco M
Publication Date: 2022
Variant appearance in text: ATM: I238T
PubMed Link:
35324914
Variant Present in the following documents:
Main text
pone.0245817.pdf
View BVdb publication page
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: 713T>C; Ile238Thr; rs149116878
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page