AKT3-IT1

Chr 1

AKT3 intronic transcript 1

NCBI Gene: 100874263ENSG00000228939
50
ClinVar variants
48
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— AKT3-IT1
📋
ClinVar Variants
48 Pathogenic / Likely Pathogenic· 2 VUS of 50 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

50 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic47
Likely Pathogenic1
VUS2
47
Pathogenic
1
Likely Pathogenic
2
VUS

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————47
Likely Pathogenic
————1
VUS
————2
Likely Benign
————0
Benign
————0
Total—50

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

AKT3-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 AKT3-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