C5ORF46
Chr 5chromosome 5 open reading frame 46
Also known as: AP-64, SSSP1
Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
20 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 14 |
Likely Pathogenic | — | — | — | — | 0 |
VUS | — | — | — | — | 4 |
Likely Benign | — | — | — | — | 2 |
Benign | — | — | — | — | 0 |
| Total | — | 20 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →C5ORF46 · 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.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools