ATM c.510_511del ;(p.Y171Lfs*13)

Variant ID: 11-108114689-CTG-C

NM_000051.3(ATM):c.510_511del;(p.Y171Lfs*13)

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: 507_508del
PubMed Link: 36816149
Variant Present in the following documents:
  • BCO2-4-156-s001.xlsx, sheet 1
View BVdb publication page



Circulating tumour DNA analysis predicts relapse and improves risk stratification in primary refractory multiple myeloma.

Blood Cancer Journal
Mithraprabhu, Sridurga S; Reynolds, John J; Turner, Rose R; Quach, Hang H; Horvath, Noemi N; Kerridge, Ian I; Kalff, Anna A; Bergin, Krystal K; Hocking, Jay J; Yuen, Flora F; Khong, Tiffany T; Durie, Brian M BM; Spencer, Andrew A
Publication Date: 2023-02-13

Variant appearance in text: ATM: 510_511delGT
PubMed Link: 36781844
Variant Present in the following documents:
  • 41408_2023_796_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia.

Case Reports In Genetics
Hettiarachchi, D D; Panchal, Hetalkumar H; Pathirana, B A P S BAPS; Rathnayaka, P D PD; Padeniya, A A; Lai, P S PS; Dissanayake, V H W VHW
Publication Date: 2020

Variant appearance in text: ATM: 510_511delGT; Tyr171fs
PubMed Link: 33376610
Variant Present in the following documents:
  • Main text
  • CRIG2020-6630300.pdf
View BVdb publication page