RNU4ATAC
Chr 2ARRNA, U4atac small nuclear
AR3 OMIM phenotypes
Clinical Summary— RNU4ATAC
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Gene-Disease Validity (ClinGen)
RNU4ATAC spectrum disorder · ARDefinitive
Definitive — sufficient evidence for diagnostic panels
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Clinical Trials
2 active or recruiting trials — potential therapeutic options may be available
Some data sources returned errors (1)
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Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RNU4ATAC · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
MOPDIIMeier-Gorlin SyndromeSaul-Wilson Syndrome
Primordial Dwarfism Registry
RECRUITINGNCT04569149Nemours Children's ClinicStarted 2008-03-11
Taybi Linder SyndromeMicrocephalic Osteodysplastic Primordial Dwarfism Types I and IIIRoifman Syndrome
Study of the Pathophysiology of RNU4ATAC and RTTN Associated Syndromes
RECRUITINGNCT06111950Phase NAHospices Civils de LyonStarted 2024-08-27
Blood samplesSkin biopsiesFetal samples
External Resources
Links to major genomics databases and tools