rs2039494684

This variant is located in the HID1 gene.

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ClinVar annotation

Pathogenic
1 submitter1 publication

Developmental and epileptic encephalopathy 105 with hypopituitarism

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About HID1

Predicted to act upstream of or within several processes, including insulin processing; secretory granule maturation; and vacuole fusion, non-autophagic. Located in Golgi apparatus; cytoplasmic microtubule; and cytosol. Implicated in developmental and epileptic encephalopathy 105. [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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