MACC1-OT1

Chr 7

MACC1 3' UTR overlapping transcript 1

NCBI Gene: 101927668ENSG00000243004
13
ClinVar variants
13
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— MACC1-OT1
📋
ClinVar Variants
13 Pathogenic / Likely Pathogenic of 13 total submissions
Some data sources returned errors (2)

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

13 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic13
13
Pathogenic

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————13
Likely Pathogenic
————0
VUS
————0
Likely Benign
————0
Benign
————0
Total—13

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MACC1-OT1 · 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 MACC1-OT1

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