CNTNAP3C

Chr 9

contactin associated protein family member 3C

Predicted to be involved in cell adhesion. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

21
ClinVar variants
20
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryCNTNAP3C
📋
ClinVar Variants
20 Pathogenic / Likely Pathogenic of 21 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

21 submitted variants in ClinVar

Classification Summary

Pathogenic19
Likely Pathogenic1
Benign1
19
Pathogenic
1
Likely Pathogenic
1
Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
19
Likely Pathogenic
1
VUS
0
Likely Benign
0
Benign
1
Total21

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CNTNAP3C · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for CNTNAP3C

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →