CEP72-DT
Chr 5CEP72 divergent transcript
I cannot provide a clinical gene summary for CEP72-DT as this appears to be a non-coding RNA transcript or pseudogene rather than a protein-coding gene, and no information about protein function, associated diseases, or inheritance patterns was provided in the data. Clinical gene summaries require established protein function and documented disease associations to be clinically useful for child neurologists.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
69 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 | — | — | — | — | 57 |
Likely Pathogenic | — | — | — | — | 0 |
VUS | — | — | — | — | 9 |
Likely Benign | — | — | — | — | 2 |
Benign | — | — | — | — | 1 |
| Total | — | 69 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CEP72-DT · 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