Bibliome.ai browser hg19
Search
About
Stats
FAQ
BRCA2 c.8090_8115del ;(p.S2697Kfs*2)
Variant ID: 13-32937429-AGCGCAAATATATCTGAAACTTCTAGC-A
NM_000059.3(
BRCA2
):c.8090_8115del;(p.S2697Kfs*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:
High penetrances of BRCA1 and BRCA2 mutations confirmed in a prospective series.
Hereditary Cancer In Clinical Practice
Møller, Pål P; Mæhle, Lovise L; Engebretsen, Lars F LF; Ludvigsen, Trond T; Jonsrud, Christoffer C; Apold, Jaran J; Vabø, Anita A; Clark, Neal N
Publication Date: 2010-01-19
Variant appearance in text: BRCA2: 8090_8115del
PubMed Link:
20180971
Variant Present in the following documents:
Main text
1897-4287-8-2.pdf
View BVdb publication page