rs2469545388

This variant is located in the NHEJ1 gene.

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ClinVar annotation

Likely Benign★☆☆☆
1 submitter1 publication

Cernunnos-XLF deficiency

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About NHEJ1

Double-strand breaks in DNA result from genotoxic stresses and are among the most damaging of DNA lesions. This gene encodes a DNA repair factor essential for the nonhomologous end-joining pathway, which preferentially mediates repair of double-stranded breaks. Mutations in this gene cause different kinds of severe combined immunodeficiency disorders. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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