EPIST

Chr 5

esophagus epithelial intergenic associated transcript

Also known as: C5orf66-AS1, XLH-36

NCBI Gene: 101927953ENSG00000249082
7
ClinVar variants
6
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— EPIST
📋
ClinVar Variants
6 Pathogenic / Likely Pathogenic· 1 VUS of 7 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

7 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic6
VUS1
6
Pathogenic
1
VUS

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————6
Likely Pathogenic
————0
VUS
————1
Likely Benign
————0
Benign
————0
Total—7

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

EPIST · 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
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

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