ATM c.4603C>T ;(p.Q1535*)

Variant ID: 11-108163512-C-T

NM_000051.3(ATM):c.4603C>T;(p.Q1535*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Bjui Compass
Mian, Abrar A; Wei, Jun J; Shi, Zhuqing Z; Rifkin, Andrew S AS; Zheng, S Lilly SL; Glaser, Alexander P AP; Kearns, James T JT; Helfand, Brian T BT; Xu, Jianfeng J
Publication Date: 2023-03

Variant appearance in text: ATM: Q1535X
PubMed Link: 36816149
Variant Present in the following documents:
  • BCO2-4-156-s001.xlsx, sheet 1
View BVdb publication page



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: Q1535X
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.

Cold Spring Harbor Molecular Case Studies
Thiffault, Isabelle I; Atherton, Andrea A; Heese, Bryce A BA; T Abdelmoity, Ahmed A; Pawar, Kailash K; Farrow, Emily E; Zellmer, Lee L; Miller, Neil N; Soden, Sarah S; Saunders, Carol C
Publication Date: 2020-06

Variant appearance in text: ATM: 4603C>T
PubMed Link: 32358097
Variant Present in the following documents:
  • supp_mcs.a003970_Supplemental_Table.xlsx, sheet 3
View BVdb publication page