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BRCA2 c.2430del ;(p.N812Ifs*13)
Variant ID: 13-32910920-AC-A
NM_000059.3(
BRCA2
):c.2430del;(p.N812Ifs*13)
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:
Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model.
European Journal Of Human Genetics : Ejhg
Tarabeux, Julien J; Zeitouni, Bruno B; Moncoutier, Virginie V; Tenreiro, Henrique H; Abidallah, Khadija K; Lair, Séverine S; Legoix-Né, Patricia P; Leroy, Quentin Q; Rouleau, Etienne E; Golmard, Lisa L; Barillot, Emmanuel E; Stern, Marc-Henri MH; Rio-Frio, Thomas T; Stoppa-Lyonnet, Dominique D; Houdayer, Claude C
Publication Date: 2014-04
Variant appearance in text: BRCA2: 2429del
PubMed Link:
23942203
Variant Present in the following documents:
Main text
View BVdb publication page