ATM c.4297T>G ;(p.Y1433D)

Variant ID: 11-108160389-T-G

NM_000051.3(ATM):c.4297T>G;(p.Y1433D)

This variant was identified in 2 publications

View GRCh38 version.




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: 4297T>G; Y1433D
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia.

Frontiers In Neurology
Pogoda, Michaela M; Hilke, Franz-Joachim FJ; Lohmann, Ebba E; Sturm, Marc M; Lenz, Florian F; Matthes, Jakob J; Muyas, Francesc F; Ossowski, Stephan S; Hoischen, Alexander A; Faust, Ulrike U; Sepahi, Ilnaz I; Casadei, Nicolas N; Poths, Sven S; Riess, Olaf O; Schroeder, Christopher C; Grundmann, Kathrin K
Publication Date: 2019

Variant appearance in text: ATM: 4297T>G; Tyr1433Asp
PubMed Link: 31920950
Variant Present in the following documents:
  • Main text
  • fneur-10-01332.pdf
View BVdb publication page