NBN gene homepage

General information
Gene symbol NBN
Gene name nibrin
Chromosome 8
Chromosomal band q21-q24
Imprinted Unknown
Genomic reference LRG_158
Transcript reference NM_002485.4
Associated with diseases ALL, anemia, ID, NBS
Citation reference(s) -
Curators (1) Gerard C.P. Schaafsma
Total number of public variants reported 255
Unique public DNA variants reported 156
Individuals with public variants 68812
Hidden variants 2
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created July 03, 2009
Date last updated February 24, 2019
Version NBN:190224

Graphical displays and utilities
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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/NBN
HGNC 7652
Entrez Gene 4683
PubMed articles NBN
OMIM - Gene 602667
OMIM - Diseases ALL (leukemia, lymphoid, acute (ALL))
anemia (anemia, aplastic, incl. susceptibility to)
NBS (Nijmegen breakage syndrome (NBS))
GeneCards NBN
GeneTests NBN

Active transcripts




NCBI ID     

NCBI Protein ID     

00014315 8 nibrin NM_002485.4 NP_002476.2 255

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