RNVU1-17

Chr 1

RNA, variant U1 small nuclear 17

Also known as: RNU1-127, vU1.17

NCBI Gene: 101954269ENSG00000207349

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]

16
ClinVar variants
8
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— RNVU1-17
📋
ClinVar Variants
8 Pathogenic / Likely Pathogenic of 16 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

16 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic8
Likely Benign2
Benign6
8
Pathogenic
2
Likely Benign
6
Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————8
Likely Pathogenic
————0
VUS
————0
Likely Benign
————2
Benign
————6
Total—16

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

RNVU1-17 · 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 RNVU1-17

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