ATM c.5716C>T ;(p.Q1906*)

Variant ID: 11-108178665-C-T

NM_000051.3(ATM):c.5716C>T;(p.Q1906*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15

Variant appearance in text: ATM: Q1906X
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 2
  • 41467_2017_Article_2688.pdf
  • 41467_2017_2688_MOESM16_ESM.xlsx, sheet 1
  • 41467_2017_2688_MOESM1_ESM.pdf
View BVdb publication page



Integrated genomic sequencing reveals mutational landscape of T-cell prolymphocytic leukemia.

Blood
Kiel, Mark J MJ; Velusamy, Thirunavukkarasu T; Rolland, Delphine D; Sahasrabuddhe, Anagh A AA; Chung, Fuzon F; Bailey, Nathanael G NG; Schrader, Alexandra A; Li, Bo B; Li, Jun Z JZ; Ozel, Ayse B AB; Betz, Bryan L BL; Miranda, Roberto N RN; Medeiros, L Jeffrey LJ; Zhao, Lili L; Herling, Marco M; Lim, Megan S MS; Elenitoba-Johnson, Kojo S J KS
Publication Date: 2014-08-28

Variant appearance in text: ATM: Q1906X
PubMed Link: 24825865
Variant Present in the following documents:
  • Main text
View BVdb publication page