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BRCA2 c.8490_8519del ;(p.W2830_I2840delins*)
Variant ID: 13-32945095-GGATGGAGAAGACATCATCTGGATTATACAT-G
NM_000059.3(
BRCA2
):c.8490_8519del;(p.W2830_I2840delins*)
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:
Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons.
Human Mutation
Acedo, Alberto A; Hernández-Moro, Cristina C; Curiel-García, Álvaro Á; Díez-Gómez, Beatriz B; Velasco, Eladio A EA
Publication Date: 2015-02
Variant appearance in text: BRCA2: 8490_8519del
PubMed Link:
25382762
Variant Present in the following documents:
Main text
humu0036-0210-sd1.pdf
View BVdb publication page