ANKRD13C-DT
Chr 1ANKRD13C divergent transcript
Also known as: HHLA3
I cannot provide a clinical gene summary for ANKRD13C-DT as no information about protein function, associated diseases, or inheritance patterns was provided in the data. The gene appears to be loss-of-function tolerant based on the low pLI score and high LOEUF value, but without additional clinical or functional data, I cannot describe what this gene does or what conditions result from mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
33 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 | — | — | — | — | 0 |
VUS | — | — | — | — | 5 |
Likely Benign | — | — | — | — | 3 |
Benign | — | — | — | — | 0 |
| Total | — | 30 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ANKRD13C-DT · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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