rs1781435066

This variant is located in the PDE10A gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter

Infantile-onset generalized dyskinesia with orofacial involvement

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About PDE10A

The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase family. It plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This protein can hydrolyze both cAMP and cGMP to the corresponding nucleoside 5' monophosphate, but has higher affinity for cAMP, and is more efficient with cAMP as substrate. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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