SNORA50B

Chr 22

small nucleolar RNA, H/ACA box 50B

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

9
ClinVar variants
6
Pathogenic / LP
pLI score
0
Active trials
Clinical SummarySNORA50B
📋
ClinVar Variants
6 Pathogenic / Likely Pathogenic· 2 VUS of 9 total submissions
Some data sources returned errors (1)

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Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

9 submitted variants in ClinVar

Classification Summary

Pathogenic6
VUS2
Likely Benign1
6
Pathogenic
2
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
6
Likely Pathogenic
0
VUS
2
Likely Benign
1
Benign
0
Total9

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SNORA50B · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for SNORA50B

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →