Variant: rs1555331969 

    present in Gene: APEX1;OSGEP
    present in Chromosome: 14
    Position on Chromosome: 20454644
    Alleles of this Variant: T/A

rs1555331969 in APEX1;OSGEP gene and GALLOWAY-MOWAT SYNDROME 3 PMID 28805828 2017 Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

PMID 28272532 2017 tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy.