rs764666741

This is a stop gained variant in the AGBL2 gene.

ClinVar annotation

Pathogenic☆☆☆
2 submitters2 publications

Abnormal brain morphology; Epilepsy

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About AGBL2

Predicted to enable metallocarboxypeptidase activity and tubulin binding activity. Predicted to be involved in protein side chain deglutamylation. Located in centriole and ciliary basal body. [provided by Alliance of Genome Resources, Jul 2025]

View all AGBL2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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