AGS9
Chr 12ARRNA, U7 small nuclear 1
Also known as: AGS9, RNU7, U7.1
The AGS9 protein is implicated in Aicardi-Goutieres syndrome, a severe early-onset neuroinflammatory disorder characterized by progressive encephalopathy, calcifications of the basal ganglia, and chronic cerebrospinal fluid lymphocytosis. Mutations cause Aicardi-Goutieres syndrome 9 with autosomal recessive inheritance.
Primary Disease Associations & Inheritance
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/AGS9?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
AGS9 · 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
No active trials found for this gene.
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External Resources
Links to major genomics databases and tools