CEP72-DT

Chr 5

CEP72 divergent transcript

NCBI Gene: 100996325ENSG00000249650
68
ClinVar variants
56
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— CEP72-DT
📋
ClinVar Variants
56 Pathogenic / Likely Pathogenic· 9 VUS of 68 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

68 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic56
VUS9
Likely Benign2
Benign1
56
Pathogenic
9
VUS
2
Likely Benign
1
Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————56
Likely Pathogenic
————0
VUS
————9
Likely Benign
————2
Benign
————1
Total—68

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CEP72-DT · 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 CEP72-DT

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