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BRCA2 c.7954_7963del ;(p.V2652Nfs*2)
Variant ID: 13-32936808-GGTGCTTCTTC-G
NM_000059.3(
BRCA2
):c.7954_7963del;(p.V2652Nfs*2)
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 DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.
Plos Genetics
Fraile-Bethencourt, Eugenia E; Díez-Gómez, Beatriz B; Velásquez-Zapata, Valeria V; Acedo, Alberto A; Sanz, David J DJ; Velasco, Eladio A EA
Publication Date: 2017-03
Variant appearance in text: BRCA2: 7954_7963del
PubMed Link:
28339459
Variant Present in the following documents:
Main text
pgen.1006691.s003.pdf
pgen.1006691.pdf
View BVdb publication page