rs147096812

This variant is located in the TUBGCP2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About TUBGCP2

Predicted to enable gamma-tubulin binding activity. Predicted to contribute to microtubule minus-end binding activity. Involved in brain development and neuron migration. Located in centrosome; ciliary basal body; and nucleoplasm. Implicated in pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures. [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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