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ATM c.3886C>T ;(p.P1296S)
Variant ID: 11-108155093-C-T
NM_000051.3(
ATM
):c.3886C>T;(p.P1296S)
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:
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: ATM: 3886C>T; P1296S; rs864622654
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Primary intracranial soft tissue sarcomas in children, adolescents, and young adults: single institution experience and review of the literature.
Journal Of Neuro-Oncology
Maher, Ossama M OM; Khatua, Soumen S; Mukherjee, Devashis D; Olar, Adriana A; Lazar, Alexander A; Luthra, Raja R; Liu, Diane D; Wu, Jimin J; Ketonen, Leena L; Zaky, Wafik W
Publication Date: 2016-03
Variant appearance in text: ATM: 3886C>T; P1296S
PubMed Link:
26718692
Variant Present in the following documents:
Main text
View BVdb publication page
Targeted ultra-deep sequencing reveals recurrent and mutually exclusive mutations of cancer genes in blastic plasmacytoid dendritic cell neoplasm.
Oncotarget
Stenzinger, Albrecht A; Endris, Volker V; Pfarr, Nicole N; Andrulis, Mindaugas M; Jöhrens, Korinna K; Klauschen, Frederick F; Siebolts, Udo U; Wolf, Thomas T; Koch, Philipp-Sebastian PS; Schulz, Miriam M; Hartschuh, Wolfgang W; Goerdt, Sergij S; Lennerz, Jochen K JK; Wickenhauser, Claudia C; Klapper, Wolfram W; Anagnostopoulos, Ioannis I; Weichert, Wilko W
Publication Date: 2014-08-15
Variant appearance in text: ATM: Pro1296Ser
PubMed Link:
25115387
Variant Present in the following documents:
Main text
oncotarget-05-6404.pdf
oncotarget-05-6404-s001.xlsx, sheet 1
View BVdb publication page