SNORA30B
Chr 9small nucleolar RNA, H/ACA box 30B
The protein is predicted to be involved in RNA processing and located in the nucleolus. Currently, no specific diseases have been definitively associated with SNORA30B mutations in the provided clinical data. The inheritance pattern and mechanism of pathogenicity remain undefined due to limited clinical evidence.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
39 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 35 |
Likely Pathogenic | — | — | — | — | 3 |
VUS | — | — | — | — | 1 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 39 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SNORA30B · 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