KLHDC7B-DT
Chr 22KLHDC7B divergent transcript
I cannot provide a clinical summary for KLHDC7B-DT as no information about this gene's protein function, associated diseases, or inheritance patterns was provided in the data below the instructions. Without specific clinical and functional data, I cannot write an accurate summary that meets the strict requirements to use only the information provided.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
127 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 | 64 | 0 | 64 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 44 | 4 | 0 | 48 |
Likely Benign | 0 | 7 | 0 | 6 | 13 |
Benign | 0 | 0 | 2 | 0 | 2 |
| Total | 0 | 51 | 70 | 6 | 127 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
KLHDC7B-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 →External Resources
Links to major genomics databases and tools