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All records describing functional studies of specific variants.
Variants associated with Fanconi anemia
A Fanconi anemia mutation database.
General information
Gene symbol BRCA1
Gene name breast cancer 1, early onset
Chromosome 17
Chromosomal band q21.31
Imprinted Unknown
Genomic reference LRG_292
Transcript reference NM_007294.3
Exon/intron information NM_007294.3
Associated with diseases BROVCA-1, FANCS, PNCA-4, cancer, breast, cancer, breast, familial
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Maaike Vreeswijk, Johan den Dunnen and Arleen D. Auerbach (curator for FA)
Total number of public variants reported 7688
Unique public DNA variants reported 1552
Individuals with public variants 10676
Hidden variants 1780
Notes All records describing functional studies of specific variants.
Date created May 03, 2013
Date last updated July 25, 2016
Version BRCA1:160725

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/BRCA1
External URL Fanconi anemia mutation databases homepage (Rockefeller University)
HGNC 1100
Entrez Gene 672
PubMed articles BRCA1
OMIM - Gene 113705
OMIM - Diseases BROVCA-1 (cancer, breast-ovarian, familial, susceptibility to, type 1 (BROVCA-1))
PNCA-4 (cancer, pancreatic, susceptibility to, type 4 (PNCA-4))
cancer, breast, familial
HGMD BRCA1
GeneCards BRCA1
GeneTests BRCA1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00003478 17 transcript variant 1 NM_007294.3 NP_009225.1 7688


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2016. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.