LOVD BRCA1 homepage

General information
Gene name Breast Cancer Type 1 susceptibility protein
Gene symbol BRCA1
Chromosome Location 17q21
Database location hci.utah.edu
Curator Julie Boyle and HCI / Tavtigian Lab
PubMed references View all (unique) PubMed references in the BRCA1 database
Date of creation October 30, 2009
Last update December 23, 2015
Version BRCA1 151223
Add sequence variant Submit a sequence variant
First time submitters Register here
GenBank reference U14680
Total number of unique DNA variants reported 662
Total number of individuals with variant(s) 540
Total number of variants reported 540
Subscribe to updates of this gene

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the BRCA1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the BRCA1 database
Summary tables Summary of all sequence variants in the BRCA1 database, sorted by type of variant (with graphical displays and statistics)
Variants with no known pathogenicity Listing of all BRCA1 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
Homepage http://hci-exlovd.hci.utah.edu/home.php?select_db=BRCA1
External link #1 https://healthcare.utah.edu/huntsmancancerinstitute/
Entrez Gene 672
OMIM - Gene 113705

Copyright & disclaimer
The BRCA1, BRCA1fx, and BRCA2 sequence variant analyses presented here are a free service offered to the scientific community. Extracts of the information in the web site may be reviewed, reproduced or translated for research or private study but may not be sold or used in conjunction with commercial purposes, and provided any use is subject to an appropriate acknowledgement of the source.

The data and information contained herein and in the results of BRCA1, BRCA1fx, and BRCA2 sequence variant analyses are provided on an ''as is'' basis and the University of Utah (UofU) and the Huntsman Cancer Institute (HCI) make no representations or warranties, either expressed or implied, as to their accuracy, completeness or suitability for a particular purpose. Similarly, UofU and HCI make no representations or warranties with regard to the non-infringement of third party proprietary rights. Thus, UofU and HCI does not accept any responsibility or liability with regard to the reliance on, and/or use of, such data and information.