ERI3-IT1

Chr 1

ERI3 intronic transcript 1

I cannot provide a clinical gene summary for ERI3-IT1 based on the information provided. ERI3-IT1 appears to be a long non-coding RNA or intergenic transcript rather than a protein-coding gene, and no clinical phenotype data, inheritance pattern, or disease associations have been supplied for analysis.

Clinical SummaryERI3-IT1
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ClinVar Variants
3 unique Pathogenic / Likely Pathogenic· 1 VUS of 4 total submissions
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

4 submitted variants in ClinVar

Classification Summary

Pathogenic2
Likely Pathogenic1
VUS1
2
Pathogenic
1
Likely Pathogenic
1
VUS

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
2
Likely Pathogenic
1
VUS
1
Likely Benign
0
Benign
0
Total4

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ERI3-IT1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
Open Research Assistant →
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found