PBX3-DT

Chr 9

PBX3 divergent transcript

I cannot write a clinical gene summary for PBX3-DT because no information about this gene's protein function, associated diseases, inheritance pattern, or pathogenic mechanisms has been provided. The gene appears to be a divergent transcript (indicated by the "-DT" suffix), but without supporting data about its clinical significance, I cannot make any claims about its role in pediatric neurogenetic conditions.

Clinical SummaryPBX3-DT
📋
ClinVar Variants
14 unique Pathogenic / Likely Pathogenic of 14 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

14 submitted variants in ClinVar

Classification Summary

Pathogenic14
14
Pathogenic

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
14
Likely Pathogenic
0
VUS
0
Likely Benign
0
Benign
0
Total14

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

PBX3-DT · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found