Variant: rs122454129 

    present in Gene: RPS6KA3
    present in Chromosome: X
    Position on Chromosome: 20175244
    Alleles of this Variant: G/A

rs122454129 in RPS6KA3 gene and Mental Retardation, X-Linked 19 PMID 10319851 1999 A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation.

PMID 17100996 2006 Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.