RNVU1-19

Chr 1

RNA, variant U1 small nuclear 19

Also known as: RNU1-126, RNU1-147, RNVU1-13, vU1.13, vU1.19

NCBI Gene: 101954277ENSG00000275538

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]

2
ClinVar variants
1
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— RNVU1-19
📋
ClinVar Variants
1 Pathogenic / Likely Pathogenic· 1 VUS of 2 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

2 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic1
VUS1
1
Pathogenic
1
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
1
0
1
Likely Pathogenic
0
0
0
0
0
VUS
0
0
1
0
1
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total00202

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

RNVU1-19 · 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
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

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