C7ORF78

Chr 7

chromosome 7 open reading frame 78

NCBI Gene: 102725191ENSG00000226690UniProt: A0A1B0GVB3
12
ClinVar variants
11
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— C7ORF78
📋
ClinVar Variants
11 Pathogenic / Likely Pathogenic of 12 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

12 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic11
Benign1
11
Pathogenic
1
Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————11
Likely Pathogenic
————0
VUS
————0
Likely Benign
————0
Benign
————1
Total—12

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

C7ORF78 · 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 C7ORF78

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