C9ORF50
Chr 9chromosome 9 open reading frame 50
The C9ORF50 protein is located in the cytoplasm, but its specific function remains poorly characterized. This gene is not well-constrained against loss-of-function variants and currently lacks established disease associations in pediatric neurology. Further research is needed to determine its clinical relevance.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
C9ORF50 · 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
External Resources
Links to major genomics databases and tools