SNORA70E

Chr 11

small nucleolar RNA, H/ACA box 70E

Also known as: U70E

This gene encodes a small nucleolar RNA (snoRNA) that is predicted to be involved in RNA processing within the nucleolus. Currently, no human diseases have been definitively associated with mutations in SNORA70E. The inheritance pattern and clinical significance of variants in this gene remain to be established.

ResearchSummary from RefSeq
Clinical SummarySNORA70E
📋
ClinVar Variants
4 unique Pathogenic / Likely Pathogenic of 4 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

4 submitted variants in ClinVar

Classification Summary

Pathogenic4
4
Pathogenic

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
4
Likely Pathogenic
0
VUS
0
Likely Benign
0
Benign
0
Total4

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SNORA70E · 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 →
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found