Variant: rs140583554 

    present in Gene: OSGEP
    present in Chromosome: 14
    Position on Chromosome: 20452066
    Alleles of this Variant: C/T

rs140583554 in OSGEP gene and Dysmorphic features 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.