rs939876

This is a intron variant variant in the TBC1D30 gene.

About TBC1D30

Enables GTPase activator activity and small GTPase binding activity. Involved in negative regulation of cilium assembly and positive regulation of GTPase activity. Located in several cellular components, including ciliary basal body; cytosol; and nuclear body. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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