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

To access more data, such as phenotypic and clinical characteristics of patients, contact us at canvas@rrp.demokritos.gr

CanVaS - A Greek Cancer Patient Genetic Variation Resource

NBN (nibrin)

LOVD v.3.0 Build 23 [ Current LOVD status ]
Register as submitter | Log in

	Curator: Despoina Kalfakakou

Submit new data

NBN gene homepage

General information
Gene symbol	NBN
Gene name	nibrin
Chromosome	8
Chromosomal band	q21.3
Imprinted	Unknown
Genomic reference	LRG_158
Transcript reference	NM_002485.4
Associated with diseases	AplAn, NBS
Citation reference(s)	-
Curators (1)	Despoina Kalfakakou
Total number of public variants reported	143
Unique public DNA variants reported	59
Individuals with public variants	179
Hidden variants	0
Date created	May 20, 2020
Date last updated	September 23, 2020
Version	NBN:200923

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	7652
Entrez Gene	4683
PubMed articles	NBN
OMIM - Gene	602667
OMIM - Diseases	AplAn (Aplastic anemia) NBS (Nijmegen breakage syndrome)

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
00000141	8	nibrin	NM_002485.4	NP_002476.2	143

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 © 2020-2024. 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.