SNORA14B
Chr 1small nucleolar RNA, H/ACA box 14B
Also known as: ACA14b
This gene encodes a small nucleolar RNA that guides pseudouridylation of 18S ribosomal RNA at position U966, which is essential for ribosome function and protein synthesis. Mutations cause Prader-Willi-like syndrome with intellectual disability, hypotonia, feeding difficulties in infancy, and subsequent hyperphagia and obesity. The condition follows an autosomal dominant inheritance pattern with early childhood onset of developmental delays and feeding abnormalities.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SNORA14B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
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External Resources
Links to major genomics databases and tools