NBN nibrin
Gene ID: 4683, updated on 28-Oct-2024Gene type: protein coding
Also known as: ATV; NBS; P95; NBS1; AT-V1; AT-V2; hNbs1
- See all available tests in GTR for this gene
- Go to complete Gene record for NBN
- Go to Variation Viewer for NBN variants
Summary
Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Acute lymphoid leukemia | not available |
| Aplastic anemia | not available |
| Microcephaly, normal intelligence and immunodeficiency | not available |
Genomic context
- Location:
- 8q21.3
- Sequence:
- Chromosome: 8; NC_000008.11 (89933331..89984667, complement)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NBN variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- NBN @ LOVD
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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