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ATM c.1121A>G ;(p.Q374R)
Variant ID: 11-108119715-A-G
NM_000051.3(
ATM
):c.1121A>G;(p.Q374R)
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: 1121A>G; Gln374Arg
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Novel Mutation p.Asp374Val of SERPINC1 in a Turkish Family with Inherited Antithrombin Deficiency
Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology
Aslan, Deniz D
Publication Date: 2021-06-01
Variant appearance in text: ATD: 1121A>G
PubMed Link:
33401890
Variant Present in the following documents:
Main text
TJH-38-161.pdf
View BVdb publication page