rs749698102

This variant is located in the NPRL3 gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter1 publication

Epilepsy, familial focal, with variable foci 3

About NPRL3

Predicted to enable GTPase activator activity. Involved in cellular response to amino acid starvation and negative regulation of TORC1 signaling. Part of GATOR1 complex. Is active in lysosomal membrane. Implicated in familial focal epilepsy with variable foci 3. [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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