ATM c.1678G>A ;(p.E560K)

Variant ID: 11-108122634-G-A

NM_000051.3(ATM):c.1678G>A;(p.E560K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Evaluating Cancer of the Central Nervous System Through Next-Generation Sequencing of Cerebrospinal Fluid.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Pentsova, Elena I EI; Shah, Ronak H RH; Tang, Jiabin J; Boire, Adrienne A; You, Daoqi D; Briggs, Samuel S; Omuro, Antonio A; Lin, Xuling X; Fleisher, Martin M; Grommes, Christian C; Panageas, Katherine S KS; Meng, Fanli F; Selcuklu, S Duygu SD; Ogilvie, Shahiba S; Distefano, Natalie N; Shagabayeva, Larisa L; Rosenblum, Marc M; DeAngelis, Lisa M LM; Viale, Agnes A; Mellinghoff, Ingo K IK; Berger, Michael F MF
Publication Date: 2016-07-10

Variant appearance in text: ATM: 1678G>A; E560K
PubMed Link: 27161972
Variant Present in the following documents:
  • supp_JCO.2016.66.6487_DS_2016.666487.xlsx, sheet 1
View BVdb publication page



Targeted-capture massively-parallel sequencing enables robust detection of clinically informative mutations from formalin-fixed tumours.

Scientific Reports
Wong, Stephen Q SQ; Li, Jason J; Salemi, Renato R; Sheppard, Karen E KE; Do, Hongdo H; Tothill, Richard W RW; McArthur, Grant A GA; Dobrovic, Alexander A
Publication Date: 2013-12-13

Variant appearance in text: ATM: 1678G>A
PubMed Link: 24336498
Variant Present in the following documents:
  • Main text
  • srep03494-s1.pdf
View BVdb publication page