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C5-OT1
Chr 9C5 3' UTR overlapping transcript 1
Also known as: C5T1LNCRNA
I cannot write a clinical gene summary for C5-OT1 because no information about this gene was provided in your request. To create an accurate summary following your guidelines, I would need specific data about the protein function, associated diseases, inheritance pattern, and pathogenic mechanism for this gene.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/C5-OT1?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
26 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 | 0 | 0 | 0 |
VUS | 0 | 11 | 1 | 0 | 12 |
Likely Benign | 0 | 0 | 0 | 4 | 4 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 11 | 11 | 4 | 26 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
C5-OT1 · 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 →No open access results found
External Resources
Links to major genomics databases and tools