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ATM c.1015A>G ;(p.I339V)
Variant ID: 11-108117804-A-G
NM_000051.3(
ATM
):c.1015A>G;(p.I339V)
This variant was identified in 2 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: 1015A>G; I339V
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.
Nature Communications
Zhang, Yiqun Y; Chen, Fengju F; Donehower, Lawrence A LA; Scheurer, Michael E ME; Creighton, Chad J CJ
Publication Date: 2021-02-10
Variant appearance in text: ATM: 1015A>G; Ile339Val; rs876659567
PubMed Link:
33568653
Variant Present in the following documents:
41467_2021_21081_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page