SNORA27

Chr 13

small nucleolar RNA, H/ACA box 27

Also known as: ACA27

SNORA27 encodes a small nucleolar RNA predicted to be involved in RNA processing within the nucleolus. Currently, no human diseases have been definitively associated with mutations in this gene, and the inheritance pattern remains unknown. The clinical significance of variants in SNORA27 has not been established.

ResearchSummary from RefSeq
Clinical SummarySNORA27
📋
ClinVar Variants
16 unique Pathogenic / Likely Pathogenic of 16 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

16 submitted variants in ClinVar

Classification Summary

Pathogenic15
Likely Pathogenic1
15
Pathogenic
1
Likely Pathogenic

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
15
Likely Pathogenic
1
VUS
0
Likely Benign
0
Benign
0
Total16

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SNORA27 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found