GAGE12D
Chr XG antigen 12D
Also known as: GAGE-12B
I cannot write a clinical gene summary for GAGE12D as no information about this gene's protein function, associated diseases, or inheritance pattern has been provided in the data below my instructions. To generate an accurate clinical summary following the specified guidelines, I would need details about what the GAGE12D protein does, what conditions result from mutations in this gene, and how those conditions are inherited.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
100 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 | 80 | 0 | 80 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 11 | 7 | 0 | 18 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 11 | 89 | 0 | 100 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GAGE12D · 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