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ATM c.1189A>C ;(p.K397Q)
Variant ID: 11-108119783-A-C
NM_000051.3(
ATM
):c.1189A>C;(p.K397Q)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers.
Genes
Toss, Angela A; Tenedini, Elena E; Piombino, Claudia C; Venturelli, Marta M; Marchi, Isabella I; Gasparini, Elisa E; Barbieri, Elena E; Razzaboni, Elisabetta E; Domati, Federica F; Caggia, Federica F; Grandi, Giovanni G; Combi, Francesca F; Tazzioli, Giovanni G; Dominici, Massimo M; Tagliafico, Enrico E; Cortesi, Laura L
Publication Date: 2021-04-21
Variant appearance in text: ATM: 1189A>C
PubMed Link:
33919281
Variant Present in the following documents:
Main text
View BVdb publication page