rs1555248311

This variant is located in the HECTD4 gene.

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ClinVar annotation

Pathogenic★☆☆☆

1 submitter

Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum

About HECTD4

Predicted to enable ubiquitin-protein transferase activity. Involved in glucose homeostasis and glucose metabolic process. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all HECTD4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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