C1ORF159
Chr 1chromosome 1 open reading frame 159
The protein encoded by C1ORF159 is predicted to be a membrane-associated protein, though its specific cellular function remains unclear. This gene shows very low constraint against loss-of-function variants (pLI = 0.0002, LOEUF = 1.3), suggesting that complete loss of function may be well-tolerated. No definitive human disease associations have been established for mutations in C1ORF159.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
169 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 | — | — | — | — | 121 |
Likely Pathogenic | — | — | — | — | 5 |
VUS | — | — | — | — | 27 |
Likely Benign | — | — | — | — | 1 |
Benign | — | — | — | — | 0 |
| Total | — | 154 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
C1ORF159 · 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 →No open access results found
External Resources
Links to major genomics databases and tools