DISC1-IT1

Chr 1

DISC1 intronic transcript 1

NCBI Gene: 104472714ENSG00000226758
16
ClinVar variants
16
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— DISC1-IT1
📋
ClinVar Variants
16 Pathogenic / Likely Pathogenic of 16 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

16 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic15
Likely Pathogenic1
15
Pathogenic
1
Likely Pathogenic

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————15
Likely Pathogenic
————1
VUS
————0
Likely Benign
————0
Benign
————0
Total—16

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

DISC1-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 DISC1-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