Variant: rs140076803 

    present in Gene: OSGEP
    present in Chromosome: 14
    Position on Chromosome: 20452057
    Alleles of this Variant: A/G

rs140076803 in 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.