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BRCA2 c.2944del ;(p.I982Yfs*9)
Variant ID: 13-32911432-TA-T
NM_000059.3(
BRCA2
):c.2944del;(p.I982Yfs*9)
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:
Cancer Predisposition Syndromes and Medulloblastoma in the Molecular Era.
Frontiers In Oncology
Carta, Roberto R; Del Baldo, Giada G; Miele, Evelina E; Po, Agnese A; Besharat, Zein Mersini ZM; Nazio, Francesca F; Colafati, Giovanna Stefania GS; Piccirilli, Eleonora E; Agolini, Emanuele E; Rinelli, Martina M; Lodi, Mariachiara M; Cacchione, Antonella A; Carai, Andrea A; Boccuto, Luigi L; Ferretti, Elisabetta E; Locatelli, Franco F; Mastronuzzi, Angela A
Publication Date: 2020
Variant appearance in text: BRCA2: 2944_2944delA
PubMed Link:
33194646
Variant Present in the following documents:
Main text
fonc-10-566822.pdf
View BVdb publication page
Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup.
Biomarker Research
Miele, Evelina E; Mastronuzzi, Angela A; Po, Agnese A; Carai, Andrea A; Alfano, Vincenzo V; Serra, Annalisa A; Colafati, Giovanna Stefania GS; Strocchio, Luisa L; Antonelli, Manila M; Buttarelli, Francesca Romana FR; Zani, Massimo M; Ferraro, Sergio S; Buffone, Amelia A; Vacca, Alessandra A; Screpanti, Isabella I; Giangaspero, Felice F; Giannini, Giuseppe G; Locatelli, Franco F; Ferretti, Elisabetta E
Publication Date: 2015
Variant appearance in text: BRCA2: 2944_2944delA; Ile982Tyrfs
PubMed Link:
26064523
Variant Present in the following documents:
Main text
40364_2015_Article_38.pdf
View BVdb publication page