rs2512989027

This variant is located in the MAST3 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter2 publications

Developmental and epileptic encephalopathy 108

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About MAST3

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in cytoskeleton organization and intracellular signal transduction. Predicted to be located in cytoplasm. Implicated in developmental and epileptic encephalopathy 108. [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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