rs142301194

This is a splice region variant variant in the NBN gene.

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ClinVar annotation

Pathogenic★★★☆

6 submitters10 publications

Aplastic anemia; Hereditary cancer-predisposing syndrome; Microcephaly, normal intelligence and immunodeficiency (NBS)

About NBN

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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