ZNHIT6
Chr 1zinc finger HIT-type containing 6
Also known as: BCD1, C1orf181, NY-BR-75
ZNHIT6 encodes a protein required for box C/D snoRNA accumulation and processing, snoRNA transport to the nucleolus, and ribosome biogenesis. Mutations cause autosomal recessive intellectual disability with delayed speech and language development. The gene shows no intolerance to loss-of-function variants based on population data.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
105 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 12 | 0 | 12 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 61 | 5 | 0 | 66 |
Likely Benign | 0 | 5 | 2 | 0 | 7 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 66 | 21 | 0 | 87 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ZNHIT6 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools