CABP7-DT

Chr 22

CABP7 divergent transcript

ENSG00000232396
10
ClinVar variants
8
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— CABP7-DT
📋
ClinVar Variants
8 Pathogenic / Likely Pathogenic· 2 VUS of 10 total submissions
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

10 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic8
VUS2
8
Pathogenic
2
VUS

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————8
Likely Pathogenic
————0
VUS
————2
Likely Benign
————0
Benign
————0
Total—10

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CABP7-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 CABP7-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