C1ORF50
Chr 1chromosome 1 open reading frame 50
The C1ORF50 protein enables identical protein binding activity, but its specific cellular function remains poorly characterized. This gene shows low constraint against loss-of-function variants (pLI = 0.03, LOEUF = 0.94), suggesting tolerance to functional disruption. Currently, no established Mendelian diseases have been definitively linked to C1ORF50 mutations in clinical practice.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
22 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 10 | 0 | 10 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 1 | 3 | 0 | 4 |
Likely Benign | 0 | 0 | 0 | 1 | 1 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 1 | 16 | 1 | 18 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
C1ORF50 · 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