C9ORF85
Chr 9chromosome 9 open reading frame 85
The C9ORF85 protein function remains poorly characterized. Mutations cause autosomal recessive intellectual disability with microcephaly, seizures, and developmental delay. The gene shows low constraint against loss-of-function variants, consistent with the recessive inheritance pattern observed in affected individuals.
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
C9ORF85 · 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.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools