Variant: rs1057517075 

    present in Gene: NBN
    present in Chromosome: 8
    Position on Chromosome: 89946138
    Alleles of this Variant: A/-

rs1057517075 in NBN gene and Nijmegen Breakage Syndrome PMID 16415040 2006 Mild Nijmegen breakage syndrome phenotype due to alternative splicing.

PMID 9590180 1998 Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.