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BRCA1 c.5147_5150del ;(p.Y1716Sfs*3)
Variant ID: 17-41215892-GAAAT-G
NM_007294.3(
BRCA1
):c.5147_5150del;(p.Y1716Sfs*3)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Human BRCA pathogenic variants were originated during recent human history.
Life Science Alliance
Li, Jiaheng J; Zhao, Bojin B; Huang, Teng T; Qin, Zixin Z; Wang, San Ming SM
Publication Date: 2022-05
Variant appearance in text: BRCA1: 5146_5149del
PubMed Link:
35165121
Variant Present in the following documents:
LSA-2021-01263.pdf
View BVdb publication page
Tumour Versus Germline BRCA Testing in Ovarian Cancer: A Single-Site Institution Experience in the United Kingdom.
Diagnostics (Basel, Switzerland)
Akaev, Iolia I; Rahimi, Siavash S; Onifade, Olubukola O; Gardner, Francis John Edward FJE; Castells-Rufas, David D; Jones, Eleanor E; Acharige, Shyamika S; Yeoh, Chit Cheng CC
Publication Date: 2021-03-19
Variant appearance in text: BRCA1: 5147_5150delATTT
PubMed Link:
33808557
Variant Present in the following documents:
Main text
diagnostics-11-00547.pdf
View BVdb publication page
Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.
The Epma Journal
Janavičius, Ramūnas R
Publication Date: 2010-09
Variant appearance in text: BRCA1: 5146_5149del
PubMed Link:
23199084
Variant Present in the following documents:
Main text
13167_2010_Article_37.pdf
View BVdb publication page