rs777175354

This variant is located in the CDK5RAP2 gene.

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ClinVar annotation

Uncertain Significance★★★☆

4 submitters1 publication

not provided; not specified; Inborn genetic diseases

About CDK5RAP2

This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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