rs148890852

This is a variant in the ZNHIT3 gene that changes a serine to an leucine.

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ClinVar annotation

Pathogenic★★★☆
3 submitters3 publications

PEHO syndrome (PEHO)

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About ZNHIT3

Predicted to enable nuclear thyroid hormone receptor binding activity. Predicted to be involved in box C/D snoRNP assembly; maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); and snoRNA localization. Located in cytoplasm and nucleus. Implicated in PEHO syndrome. [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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