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.




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