Variant: rs122454124 

    present in Gene: RPS6KA3
    present in Chromosome: X
    Position on Chromosome: 20209307
    Alleles of this Variant: C/A

rs122454124 in RPS6KA3 gene and Coffin-Lowry syndrome PMID 15214012 2004 Cardiomyopathy in Coffin-Lowry syndrome.

PMID 8955270 1996 Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome.

PMID 9837815 1998 Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations.

PMID 14986828 2003 Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome.

PMID 10528858 1999 Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome.

PMID 10094187 1999 Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS).