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ATM c.5369A>T ;(p.D1790V)
Variant ID: 11-108173629-A-T
NM_000051.3(
ATM
):c.5369A>T;(p.D1790V)
This variant was identified in 1 publication
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: 5369A>T; Asp1790Val
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page