LongevityMap variant

Entry Details

Longevity Association
Non-significant
Population
Danish
Study Design
592 SNPs from 77 genes involved in nine sub-processes were analyzed in 1089 long-lived and 736 middle-aged Danes. Then, a replicated study was carried out in a German cohort.
Conclusions
The results did not remain significant after correction. The findings drawn from the Danish cohort were not replicated in German samples.
Identifier
rs12680687
In Other Studies (IDs)
1953
Cytogenetic Location
8q21.3
UCSC Genome Browser
View 8q21.3 on the UCSC genome browser

Gene details

HGNC symbol
NBN
Aliases
ATV; NBS; P95; NBS1; AT-V1; AT-V2 
Common name
nibrin 
Description
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]
Other longevity studies of this gene
13
OMIM
602667
Ensembl
ENSG00000104320
UniProt/Swiss-Prot
A0A0C4DG07_HUMAN
Entrez Gene
4683
UniGene
492208
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
nbn
Mus musculus
Nbn
Rattus norvegicus
Nbn

In other databases

GenAge human genes
  • This gene is present as NBN

References

Debrabant et al. (2014)

Other variants which are also part of this study