rs768633670

This is a variant in the TTC3 gene that changes a methionine to an threonine.

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ClinVar annotation

Pathogenic★★★☆
7 submitters5 publications

Developmental and epileptic encephalopathy, 55; Early infantile epileptic encephalopathy with suppression bursts (EIEE); PIGP-related disorder; See cases

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About TTC3

Enables ubiquitin-protein transferase activity. Involved in protein K48-linked ubiquitination and ubiquitin-dependent protein catabolic process. Located in cytosol; nucleolus; and nucleoplasm. [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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