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ATM c.2057T>A ;(p.L686H)
Variant ID: 11-108124699-T-A
NM_000051.3(
ATM
):c.2057T>A;(p.L686H)
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:
The Mutational Landscape of Early-Onset Breast Cancer: A Next-Generation Sequencing Analysis.
Frontiers In Oncology
Andrikopoulou, Angeliki A; Chatzinikolaou, Spyridoula S; Kyriopoulos, Ilias I; Bletsa, Garyfalia G; Kaparelou, Maria M; Liontos, Michalis M; Dimopoulos, Meletios-Athanasios MA; Zagouri, Flora F
Publication Date: 2021
Variant appearance in text: ATM: 2057T>A; Leu686His; rs1239416977
PubMed Link:
35127508
Variant Present in the following documents:
Main text
fonc-11-797505.pdf
View BVdb publication page
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: 2057T>A; L686H
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page