Variant: rs1555927554 

    present in Gene: RPS6KA3
    present in Chromosome: X
    Position on Chromosome: 20164964
    Alleles of this Variant: G/A

rs1555927554 in RPS6KA3 gene and Dysmorphic features PMID 26043507 2015 A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

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

PMID 24311527 2014 Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.

PMID 25044551 2014 The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients.

PMID 20637903 2011 Four novel RSK2 mutations in females with Coffin-Lowry syndrome.

PMID 24859339 2014 Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 11180593 2001 Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.

PMID 15668050 2005 RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes.

PMID 12030896 2002 Cognitive function in Coffin-Lowry syndrome.

rs1555927554 in RPS6KA3 gene and Multiple congenital anomalies PMID 12030896 2002 Cognitive function in Coffin-Lowry syndrome.

PMID 20637903 2011 Four novel RSK2 mutations in females with Coffin-Lowry syndrome.

PMID 24311527 2014 Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.

PMID 11180593 2001 Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.

PMID 25044551 2014 The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients.

PMID 26043507 2015 A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 24859339 2014 Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder.

PMID 15668050 2005 RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes.

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