rs200852859
This variant is located in the ZNHIT3 gene.
▶ClinVar annotation
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]
View all ZNHIT3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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