C13ORF46

Chr 13

chromosome 13 open reading frame 46

I cannot provide a clinical summary for C13ORF46 because no information about this gene's protein function, associated diseases, or inheritance pattern was provided in the data. A clinical summary requires specific details about what the protein does, what conditions result from mutations, and how the gene is inherited.

Clinical SummaryC13ORF46
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ClinVar Variants
46 unique Pathogenic / Likely Pathogenic· 1 VUS of 49 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

49 submitted variants in ClinVar

Classification Summary

Pathogenic45
Likely Pathogenic1
VUS1
Likely Benign2
45
Pathogenic
1
Likely Pathogenic
1
VUS
2
Likely Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
45
Likely Pathogenic
1
VUS
1
Likely Benign
2
Benign
0
Total49

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

C13ORF46 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found