PFKP-DT
Chr 10PFKP divergent transcript
I cannot provide a clinical summary for PFKP-DT 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 following the strict guidelines, I would need specific information about what the protein does, what conditions result from mutations, and the inheritance pattern.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
20 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 | — | — | — | — | 11 |
Likely Pathogenic | — | — | — | — | 2 |
VUS | — | — | — | — | 4 |
Likely Benign | — | — | — | — | 1 |
Benign | — | — | — | — | 2 |
| Total | — | 20 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PFKP-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