ECI2-DT

Chr 6

ECI2 divergent transcript

NCBI Gene: 100507506ENSG00000234817
29
ClinVar variants
27
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— ECI2-DT
📋
ClinVar Variants
27 Pathogenic / Likely Pathogenic· 2 VUS of 29 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

29 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic23
Likely Pathogenic4
VUS2
23
Pathogenic
4
Likely Pathogenic
2
VUS

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————23
Likely Pathogenic
————4
VUS
————2
Likely Benign
————0
Benign
————0
Total—29

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ECI2-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 ECI2-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