View BRCA1 gene homepage - Labor Staber Humangenetik

Labor Staber Humangenetik

BRCA1, DNA repair associated (BRCA1)

LOVD v.3.0 Build 16 [ Current LOVD status ]
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Curator: Florian Bayersdorfer

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General information
Gene symbol	BRCA1
Gene name	BRCA1, DNA repair associated
Chromosome	17
Chromosomal band	q21.31
Imprinted	Unknown
Genomic reference	LRG_292
Transcript reference	NM_007294.3
Associated with diseases	BROVCA1
Citation reference(s)	-
Curators (1)	Florian Bayersdorfer
Total number of public variants reported	13
Unique public DNA variants reported	12
Individuals with public variants	0
Hidden variants	0
Date created	June 24, 2016
Date last updated	October 08, 2020
Version	BRCA1:201008

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
HGNC	1100
Entrez Gene	672
PubMed articles	BRCA1
OMIM - Gene	113705
OMIM - Diseases	BROVCA1 (BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1)
HGMD	BRCA1
GeneCards	BRCA1
GeneTests	BRCA1

Active transcripts

Legend

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000003	17	breast cancer 1, early onset, transcript variant 1	NM_007294.3	NP_009225.1	13

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