SNORA58B

Chr 1

small nucleolar RNA, H/ACA box 58B

NCBI Gene: 109617023ENSG00000201129

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
Clinical Summary— SNORA58B
📋
ClinVar Variants
1 unique Pathogenic / Likely Pathogenic of 1 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

1 submitted variants in ClinVar

ClinVar

Classification Summary

Likely Pathogenic1
1
Likely Pathogenic

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
1
0
0
0
1
VUS
0
0
0
0
0
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total10001

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

2 pathogenic / likely-pathogenic (of 2) ClinVar copy-number / structural variants overlap SNORA58B — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

SNORA58B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients