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ATM c.118A>G ;(p.I40V)
Variant ID: 11-108098548-A-G
NM_000051.3(
ATM
):c.118A>G;(p.I40V)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
High-risk multiple myeloma predicted by circulating plasma cells and its genetic characteristics.
Frontiers In Oncology
Xia, Yuan Y; Shen, Na N; Zhang, Run R; Wu, Yujie Y; Shi, Qinglin Q; Li, Jianyong J; Chen, Lijuan L; Xu, Min M; Jin, Yuanyuan Y
Publication Date: 2023
Variant appearance in text: rs1064796002
PubMed Link:
36845679
Variant Present in the following documents:
Table_1.xlsx, sheet 2
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: 118A>G; Ile40Val
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Genome re-sequencing to identify single nucleotide polymorphism markers for muscle color traits in broiler chickens.
Asian-Australasian Journal Of Animal Sciences
Kong, H R HR; Anthony, N B NB; Rowland, K C KC; Khatri, B B; Kong, B C BC
Publication Date: 2018-01
Variant appearance in text: ATM: I40V
PubMed Link:
28830129
Variant Present in the following documents:
Main text
ajas-31-1-13.pdf
View BVdb publication page