ATM c.1236-2A>T

Variant ID: 11-108121426-A-T

NM_000051.3(ATM):c.1236-2A>T

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Tumor evolutionary trajectories during the acquisition of invasiveness in early stage lung adenocarcinoma.

Nature Communications
Wang, Siwei S; Du, Mulong M; Zhang, Jingyuan J; Xu, Weizhang W; Yuan, Qianyu Q; Li, Ming M; Wang, Jie J; Zhu, Hongyu H; Wang, Yuzhuo Y; Wang, Cheng C; Gong, Yuhua Y; Wang, Xiaonan X; Hu, Zhibin Z; Christiani, David C DC; Xu, Lin L; Shen, Hongbing H; Yin, Rong R
Publication Date: 2020-11-27

Variant appearance in text: rs80159221
PubMed Link: 33247113
Variant Present in the following documents:
  • 41467_2020_19855_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



TRIM28 congenital predisposition to Wilms' tumor: novel mutations and presentation in a sibling pair.

Cold Spring Harbor Molecular Case Studies
Moore, Colin C; Monforte, Hector H; Teer, Jamie K JK; Zhang, Yonghong Y; Yoder, Sean S; Brohl, Andrew S AS; Reed, Damon R DR
Publication Date: 2020-08

Variant appearance in text: ATM: 1236-2A>T; rs80159221
PubMed Link: 32699065
Variant Present in the following documents:
  • supp_mcs.a004796_Supplemental_Table_1.xlsx, sheet 1
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: ATM: 1236-2A>T; rs80159221
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page