SNORA80C

Chr 16

small nucleolar RNA, H/ACA box 80C

NCBI Gene: 109616959ENSG00000199787

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

0
Active trials
6
Pathogenic / LP
7
ClinVar variants
0
Pubs (1 yr)
—
Missense Z
—
LOEUF
Clinical Summary— SNORA80C
📋
ClinVar Variants
6 Pathogenic / Likely Pathogenic· 1 VUS of 7 total submissions
Some data sources returned errors (1)

pubtator: Error: PubTator3 HTTP 502

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

7 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic6
VUS1
6
Pathogenic
1
VUS

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————6
Likely Pathogenic
————0
VUS
————1
Likely Benign
————0
Benign
————0
Total—7

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SNORA80C · 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 →
Clinical Literature
Landmark / reviewRecent case evidence

No publications found for SNORA80C

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