COSMOC
Chr 18cell fate and sterol metabolism associated divergent transcript of MOCOS
I cannot write a clinical summary for COSMOC as no information about this gene was provided below the instructions. To create an accurate summary following the strict rules, I would need data about the protein function, associated diseases, inheritance patterns, and any relevant clinical features or constraint metrics.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
25 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 | — | — | — | — | 22 |
Likely Pathogenic | — | — | — | — | 2 |
VUS | — | — | — | — | 1 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 25 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
COSMOC · 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