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ATM c.580G>T ;(p.V194F)
Variant ID: 11-108114763-G-T
NM_000051.3(
ATM
):c.580G>T;(p.V194F)
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:
Embryonic signature distinguishes pediatric and adult rhabdoid tumors from other SMARCB1-deficient cancers.
Oncotarget
Richer, Wilfrid W; Masliah-Planchon, Julien J; Clement, Nathalie N; Jimenez, Irene I; Maillot, Laetitia L; Gentien, David D; Albaud, Benoît B; Chemlali, Walid W; Galant, Christine C; Larousserie, Frederique F; Boudou-Rouquette, Pascaline P; Leruste, Amaury A; Chauvin, Celine C; Han, Zhi Yan ZY; Coindre, Jean-Michel JM; Varlet, Pascale P; Freneaux, Paul P; Ranchère-Vince, Dominique D; Delattre, Olivier O; Bourdeaut, Franck F
Publication Date: 2017-05-23
Variant appearance in text: ATM: 580G>T
PubMed Link:
28427232
Variant Present in the following documents:
Main text
View BVdb publication page