rs964265383

This variant is located in the RAC1 gene.

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ClinVar annotation

Likely Pathogenic★☆☆☆
1 submitter1 publication

Intellectual disability, autosomal dominant 48

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About RAC1

The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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