AGBL4-IT1

Chr 1

AGBL4 intronic transcript 1

NCBI Gene: 100874313ENSG00000225623
5
ClinVar variants
1
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— AGBL4-IT1
📋
ClinVar Variants
1 Pathogenic / Likely Pathogenic· 3 VUS of 5 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

5 submitted variants in ClinVar

ClinVar

Classification Summary

Likely Pathogenic1
VUS3
Likely Benign1
1
Likely Pathogenic
3
VUS
1
Likely Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————0
Likely Pathogenic
————1
VUS
————3
Likely Benign
————1
Benign
————0
Total—5

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

AGBL4-IT1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for AGBL4-IT1

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools