SNORA62
Chr 21small nucleolar RNA, H/ACA box 62
Also known as: E2, E2-1, RNE2, RNU108
SNORA62 encodes a small nucleolar RNA that is part of the box H/ACA ribonucleoprotein complex involved in RNA processing and pseudouridylation of ribosomal RNA. Mutations cause intellectual disability with developmental delay and dysmorphic features, inherited in an autosomal recessive pattern. The phenotype typically presents in early childhood with global developmental delays affecting multiple systems.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SNORA62 · 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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Links to major genomics databases and tools