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BRCA2 c.1000del ;(p.H334Mfs*15)
Variant ID: 13-32906613-TC-T
NM_000059.3(
BRCA2
):c.1000del;(p.H334Mfs*15)
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:
Epithelial ovarian cancer risk: A review of the current genetic landscape.
Clinical Genetics
Flaum, Nicola N; Crosbie, Emma J EJ; Edmondson, Richard J RJ; Smith, Miriam J MJ; Evans, Dafydd G DG
Publication Date: 2020-01
Variant appearance in text: BRCA2: 999del
PubMed Link:
31099061
Variant Present in the following documents:
Main text
CGE-97-54.pdf
View BVdb publication page
Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families.
Bmc Medical Genetics
Filippini, Sandra S; Blanco, Ana A; Fernández-Marmiesse, Ana A; Alvarez-Iglesias, Vanesa V; Ruíz-Ponte, Clara C; Carracedo, Angel A; Vega, Ana A
Publication Date: 2007-06-29
Variant appearance in text: BRCA2: 999del
PubMed Link:
17603881
Variant Present in the following documents:
Main text
1471-2350-8-40.pdf
View BVdb publication page