C20ORF203
Chr 20chromosome 20 open reading frame 203
The protein encoded by this gene appears to be human-specific with limited functional characterization. Currently, no established Mendelian diseases or clear inheritance patterns have been definitively linked to mutations in C20ORF203. Some studies have suggested potential associations with nicotine addiction and elevated expression in Alzheimer's disease, but the clinical significance of variants in this gene remains unclear.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
27 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 | 12 | 0 | 12 |
Likely Pathogenic | 0 | 0 | 4 | 0 | 4 |
VUS | 0 | 3 | 3 | 0 | 6 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 3 | 19 | 0 | 22 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
C20ORF203 · 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