RNU5D-1

Chr 1

RNA, U5D small nuclear 1

Also known as: RNU5D, U5DL, U5DS

NCBI Gene: 26830ENSG00000200169

Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U5 snRNP. [provided by Alliance of Genome Resources, Jul 2025]

3
ClinVar variants
1
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— RNU5D-1
📋
ClinVar Variants
1 Pathogenic / Likely Pathogenic· 2 VUS of 3 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

3 submitted variants in ClinVar

ClinVar

Classification Summary

Likely Pathogenic1
VUS2
1
Likely Pathogenic
2
VUS

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————0
Likely Pathogenic
————1
VUS
————2
Likely Benign
————0
Benign
————0
Total—3

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

RNU5D-1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence

No publications found for RNU5D-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