DAPK1-IT1
Chr 9DAPK1 intronic transcript 1
I cannot provide a clinical summary for DAPK1-IT1 as no information about this gene's protein function, associated diseases, or inheritance pattern was provided in the data below the rules. To write an accurate clinical summary, I would need specific information about what protein this gene encodes, what neurological conditions result from mutations, and the inheritance pattern observed in affected families.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
31 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 | — | — | — | — | 24 |
Likely Pathogenic | — | — | — | — | 4 |
VUS | — | — | — | — | 3 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 31 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DAPK1-IT1 · 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