C16ORF82

Chr 16

chromosome 16 open reading frame 82

Also known as: TNT

I don't have sufficient information about the C16ORF82 gene to write a clinical summary. The data provided does not include details about the protein function, associated diseases, inheritance patterns, or clinical phenotypes that would be necessary to create an accurate and useful summary for child neurologists.

Clinical SummaryC16ORF82
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ClinVar Variants
31 unique Pathogenic / Likely Pathogenic· 12 VUS of 46 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

46 submitted variants in ClinVar

Classification Summary

Pathogenic28
Likely Pathogenic3
VUS12
Likely Benign2
28
Pathogenic
3
Likely Pathogenic
12
VUS
2
Likely Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
28
Likely Pathogenic
3
VUS
12
Likely Benign
2
Benign
0
Total45

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

C16ORF82 · 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 →
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found