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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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