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BRCA2 c.3510C>T ;(p.A1170=)
Variant ID: 13-32912002-C-T
NM_000059.3(
BRCA2
):c.3510C>T;(p.A1170=)
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:
Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes.
Genome Medicine
Billaud, Amandine A; Chevalier, Louise-Marie LM; Augereau, Paule P; Frenel, Jean-Sebastien JS; Passot, Christophe C; Campone, Mario M; Morel, Alain A
Publication Date: 2021-11-09
Variant appearance in text: BRCA2: 3510C>T; Ala1170=
PubMed Link:
34749799
Variant Present in the following documents:
13073_2021_976_MOESM1_ESM.pdf
View BVdb publication page
655Val and 1170Pro ERBB2 SNPs in familial breast cancer risk and BRCA1 alterations.
Cellular Oncology : The Official Journal Of The International Society For Cellular Oncology
Tommasi, Stefania S; Fedele, Vita V; Lacalamita, Rosanna R; Bruno, Michele M; Schittulli, Francesco F; Ginzinger, David D; Scott, Gery G; Eppenberger-Castori, Serenella S; Calistri, Daniele D; Casadei, Silvia S; Seymour, Ian I; Longo, Salvatore S; Giannelli, Gianluigi G; Pilato, Brunella B; Simone, Giovanni G; Benz, Christopher C CC; Paradiso, Angelo A
Publication Date: 2007
Variant appearance in text: BRCA2: Ala1170Ala
PubMed Link:
17452776
Variant Present in the following documents:
ACP-2007-29-3-512518.pdf
View BVdb publication page