ATM c.1724C>T ;(p.S575L)

Variant ID: 11-108122680-C-T

NM_000051.3(ATM):c.1724C>T;(p.S575L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cancer carrier screening in the general population using whole-genome sequencing.

Cancer Medicine
Chang, Ya-Sian YS; Chao, Dy-San DS; Chung, Chin-Chun CC; Chou, Yu-Pao YP; Chang, Chieh-Min CM; Lin, Chia-Li CL; Chu, Hou-Wei HW; Chen, Hon-Da HD; Liu, Ting-Yuan TY; Juan, Yu-Hsuan YH; Chang, Shun-Jen SJ; Chang, Jan-Gowth JG
Publication Date: 2022-07-21

Variant appearance in text: ATM: 1724C>T
PubMed Link: 35861108
Variant Present in the following documents:
  • CAM4-12-1972-s008.xlsx, sheet 1
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: 1724C>T
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page