RNU12

Chr 22AR

RNA, U12 small nuclear

Also known as: CDAGS, RNU12-1, RNU12L, RNU12P, SCAR33, dJ222E13.7

NCBI Gene: 267010ENSG00000276027

Predicted to enable pre-mRNA branch point binding activity. Predicted to be involved in negative regulation of neuron apoptotic process. Predicted to act upstream of or within RNA splicing. Predicted to be part of U12 snRNP. Implicated in autosomal recessive spinocerebellar ataxia 33. [provided by Alliance of Genome Resources, Jul 2025]

Primary Disease Associations & Inheritance

?Spinocerebellar ataxia, autosomal recessive 33MIM #620208
AR
CDAGS syndromeMIM #603116
AR
25
ClinVar variants
19
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— RNU12
📋
ClinVar Variants
19 Pathogenic / Likely Pathogenic· 4 VUS of 25 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

25 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic15
Likely Pathogenic4
VUS4
Likely Benign1
Benign1
15
Pathogenic
4
Likely Pathogenic
4
VUS
1
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
15
0
15
Likely Pathogenic
0
0
4
0
4
VUS
0
0
4
0
4
Likely Benign
0
0
1
0
1
Benign
0
0
1
0
1
Total0025025

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

View in ClinVar →

Protein Context — Lollipop Plot

RNU12 · protein map & ClinVar variants

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

Gene2Phenotype Curations

RNU12-related CDAGS syndrome

limited
ARUndeterminedAltered Gene Product Structure
Dev. DisordersSkin
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

?Spinocerebellar ataxia, autosomal recessive 33

MIM #620208

Molecular basis of disorder known

Autosomal recessive

CDAGS syndrome

MIM #603116

Molecular basis of disorder known

Autosomal recessive
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
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