RNVU1-27

Chr 1

RNA, variant U1 small nuclear 27

NCBI Gene: 124904621ENSG00000274210

Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Jul 2025]

61
ClinVar variants
59
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— RNVU1-27
📋
ClinVar Variants
59 Pathogenic / Likely Pathogenic· 2 VUS of 61 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

61 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic46
Likely Pathogenic13
VUS2
46
Pathogenic
13
Likely Pathogenic
2
VUS

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————46
Likely Pathogenic
————13
VUS
————2
Likely Benign
————0
Benign
————0
Total—61

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

RNVU1-27 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for RNVU1-27

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