BRCA1 gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

BRCA1 (BRCA1 DNA repair associated)

LOVD v.3.0 Build 23 [ Current LOVD status ]
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	Curator: Despoina Kalfakakou

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BRCA1 gene homepage

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, NM_007297.3, NM_007298.3, NM_007299.3, NM_007300.3
Associated with diseases	BrCa, BROVCA1, FANCS, PNCA4
Citation reference(s)	-
Curators (1)	Despoina Kalfakakou
Total number of public variants reported	1207
Unique public DNA variants reported	221
Individuals with public variants	1447
Hidden variants	0
Date created	May 20, 2020
Date last updated	June 14, 2022
Version	BRCA1:220614

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	BrCa (Breast Cancer) BROVCA1 (Breast-ovarian cancer, familial, 1) FANCS (Fanconi anemia, complementation group S) PNCA4 (Pancreatic cancer, susceptibility to, 4)

Active transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000012	17	breast cancer 1, early onset, transcript variant 1	NM_007294.3	NP_009225.1	1207
00000014	17	breast cancer 1, early onset, transcript variant 3	NM_007297.3	NP_009228.2	1207
00000016	17	breast cancer 1, early onset, transcript variant 5	NM_007299.3	NP_009230.2	1207
00000013	17	breast cancer 1, early onset, transcript variant 2	NM_007300.3	NP_009231.2	1206
00000015	17	breast cancer 1, early onset, transcript variant 4	NM_007298.3	NP_009229.2	1203

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