ATM c.418G>T ;(p.D140Y)

Variant ID: 11-108106483-G-T

NM_000051.3(ATM):c.418G>T;(p.D140Y)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: ATM: D140Y
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_3.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: rs55633650
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Nassar, Amin H AH; Abou Alaiwi, Sarah S; AlDubayan, Saud H SH; Moore, Nicholas N; Mouw, Kent W KW; Kwiatkowski, David J DJ; Choueiri, Toni K TK; Curran, Catherine C; Berchuck, Jacob E JE; Harshman, Lauren C LC; Nuzzo, Pier V PV; Chanza, Nieves Martinez NM; Van Allen, Eliezer E; Esplin, Edward D ED; Yang, Shan S; Callis, Thomas T; Garber, Judy E JE; Rana, Huma Q HQ; Sonpavde, Guru G
Publication Date: 2020-04

Variant appearance in text: ATM: 418G>T
PubMed Link: 31844177
Variant Present in the following documents:
  • 41436_2019_720_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page