The BRCA1 gene homepage

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
Associated with diseases BROVCA-1, FANCS, PNCA-4, cancer, breast, cancer, breast, familial
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 126
Unique public DNA variants reported 20
Individuals with public variants 35
Hidden variants 35
Date created November 30, -0001
Date last updated September 28, 2016
Version BRCA1:160928

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC 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


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00010299 17 transcript variant 1 NM_007294.3 NP_009225.1 126