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ATM c.1522C>T ;(p.L508F)
Variant ID: 11-108121714-C-T
NM_000051.3(
ATM
):c.1522C>T;(p.L508F)
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: 1522C>T; L508F
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Germline mutation in the TP53 gene in uveal melanoma.
Scientific Reports
Hajkova, Nikola N; Hojny, Jan J; Nemejcova, Kristyna K; Dundr, Pavel P; Ulrych, Jan J; Jirsova, Katerina K; Glezgova, Johana J; Ticha, Ivana I
Publication Date: 2018-05-16
Variant appearance in text: ATM: 1522C>T; L508F
PubMed Link:
29769598
Variant Present in the following documents:
Main text
41598_2018_Article_26040.pdf
41598_2018_26040_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page