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


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000141 8 nibrin NM_002485.4 NP_002476.2 143


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