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ATM c.8489T>G ;(p.V2830G)
Variant ID: 11-108216540-T-G
NM_000051.3(
ATM
):c.8489T>G;(p.V2830G)
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:
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Scientific Reports
Reza, Mahjerin Nasrin MN; Ferdous, Nadim N; Emon, Md Tabassum Hossain MTH; Islam, Md Shariful MS; Mohiuddin, A K M AKM; Hossain, Mohammad Uzzal MU
Publication Date: 2021-09-28
Variant appearance in text: ATM: V2830G
PubMed Link:
34584144
Variant Present in the following documents:
Main text
41598_2021_Article_98547.pdf
View BVdb publication page
Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.
Breast Cancer Research : Bcr
Renault, Anne-Laure AL; Mebirouk, Noura N; Fuhrmann, Laetitia L; Bataillon, Guillaume G; Cavaciuti, Eve E; Le Gal, Dorothée D; Girard, Elodie E; Popova, Tatiana T; La Rosa, Philippe P; Beauvallet, Juana J; Eon-Marchais, Séverine S; Dondon, Marie-Gabrielle MG; d'Enghien, Catherine Dubois CD; Laugé, Anthony A; Chemlali, Walid W; Raynal, Virginie V; Labbé, Martine M; Bièche, Ivan I; Baulande, Sylvain S; Bay, Jacques-Olivier JO; Berthet, Pascaline P; Caron, Olivier O; Buecher, Bruno B; Faivre, Laurence L; Fresnay, Marc M; Gauthier-Villars, Marion M; Gesta, Paul P; Janin, Nicolas N; Lejeune, Sophie S; Maugard, Christine C; Moutton, Sébastien S; Venat-Bouvet, Laurence L; Zattara, Hélène H; Fricker, Jean-Pierre JP; Gladieff, Laurence L; Coupier, Isabelle I; , ; , ; , ; Chenevix-Trench, Georgia G; Hall, Janet J; Vincent-Salomon, Anne A; Stoppa-Lyonnet, Dominique D; Andrieu, Nadine N; Lesueur, Fabienne F
Publication Date: 2018-04-17
Variant appearance in text: ATM: 8489T>G; Val2830Gly
PubMed Link:
29665859
Variant Present in the following documents:
Main text
13058_2018_Article_951.pdf
View BVdb publication page
Cellular responses to ionising radiation of AT heterozygotes: differences between missense and truncating mutation carriers.
British Journal Of Cancer
Fernet, M M; Moullan, N N; Lauge, A A; Stoppa-Lyonnet, D D; Hall, J J
Publication Date: 2004-02-23
Variant appearance in text: ATM: val2830gly
PubMed Link:
14970866
Variant Present in the following documents:
Main text
90-6601549a.pdf
View BVdb publication page