EPB41L4A-DT

Chr 5

EPB41L4A divergent transcript

Also known as: EPB41L4A-AS2

NCBI Gene: 54508ENSG00000278921
15
ClinVar variants
14
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— EPB41L4A-DT
📋
ClinVar Variants
14 Pathogenic / Likely Pathogenic· 1 VUS of 15 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

15 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic14
VUS1
14
Pathogenic
1
VUS

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————14
Likely Pathogenic
————0
VUS
————1
Likely Benign
————0
Benign
————0
Total—15

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

EPB41L4A-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 EPB41L4A-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