RNVU1-1

Chr 1

RNA, variant U1 small nuclear 1

Also known as: RNU1-10P, RNU1-53, RNU1P10, RNVU1-10, U1.4, U1P14, vU1.1, vU1.10

NCBI Gene: 101954273ENSG00000207340

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]

87
ClinVar variants
84
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— RNVU1-1
📋
ClinVar Variants
84 Pathogenic / Likely Pathogenic· 2 VUS of 87 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

87 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic68
Likely Pathogenic16
VUS2
Benign1
68
Pathogenic
16
Likely Pathogenic
2
VUS
1
Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————68
Likely Pathogenic
————16
VUS
————2
Likely Benign
————0
Benign
————1
Total—87

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

RNVU1-1 · 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 RNVU1-1

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