Variant: rs1553433412 

    present in Gene: TPRKB
    present in Chromosome: 2
    Position on Chromosome: 73730594
    Alleles of this Variant: A/G

rs1553433412 in TPRKB gene and GALLOWAY-MOWAT SYNDROME 5 PMID 28805828 2017 Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.