ZNHIT3
zinc finger HIT-type containing 3
Summary
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]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs768334714 | 17:34,842,550 | T/A | — | uncertain significance |
| rs143659130 | 17:34,842,554 | T/C | — | uncertain significance |
| rs368024761 | 17:34,842,560 | G/A | — | uncertain significance |
| rs112194209 | 17:34,842,564 | C/T | — | likely benign |
| rs2508566408 | 17:34,842,616 | T/G | — | uncertain significance |
| rs2508566485 | 17:34,842,623 | T/A | — | uncertain significance |
| rs377271926 | 17:34,842,627 | C/T | — | likely benign |
| rs143086637 | 17:34,842,638 | G/A | — | benign |
| rs148890852 | 17:34,842,784 | C/T | missense variant | pathogenic |
| rs201228623 | 17:34,842,798 | C/T | — | uncertain significance |
| rs200852859 | 17:34,842,808 | A/G | — | uncertain significance |
| rs150936788 | 17:34,843,692 | A/G | downstream gene variant | — |
| rs771614002 | 17:34,848,701 | T/C | — | uncertain significance |
| rs548272327 | 17:34,848,722 | G/A | — | likely benign |
| rs147606592 | 17:34,849,777 | T/C | — | likely benign |
| rs1229708777 | 17:34,849,784 | A/G | — | likely benign |
| rs749444781 | 17:34,849,834 | G/T | — | uncertain significance |
| rs758467742 | 17:34,851,141 | G/A | — | uncertain significance |
| rs2508646689 | 17:34,851,142 | A/G | — | uncertain significance |
| rs72818336 | 17:34,853,153 | T/C | downstream gene variant | — |
| rs140610432 | 17:34,853,569 | C/T | — | benign |
| rs2306590 | 17:34,854,280 | G/A | missense variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.