rs2519650189

This variant is located in the RPS6KA3 gene.

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ClinVar annotation

Likely Benign★☆☆☆
1 submitter1 publication

Coffin-Lowry syndrome;Intellectual disability, X-linked 19

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About RPS6KA3

This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Mutations in this gene have been associated with Coffin-Lowry syndrome (CLS). [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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