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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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