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ATM c.722A>G ;(p.K241R)
Variant ID: 11-108115574-A-G
NM_000051.3(
ATM
):c.722A>G;(p.K241R)
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:
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.
Npj Genomic Medicine
Sakaguchi, Narumi N; Suyama, Mikita M
Publication Date: 2022-03-18
Variant appearance in text: ATM: 722A>G; Lys241Arg; rs1021907990
PubMed Link:
35304488
Variant Present in the following documents:
41525_2022_294_MOESM2_ESM.xlsx, sheet 1
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: 722A>G; Lys241Arg
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page