EFNA4-EFNA3

Chr 1

EFNA4-EFNA3 readthrough

This locus represents naturally occurring readthrough transcription between the neighboring EFNA4 (ephrin A4) and EFNA3 (ephrin A3) genes on chromosome 1. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Jun 2022]

ResearchGenerating clinical summary…
Clinical SummaryEFNA4-EFNA3
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ClinVar Variants
62 VUS of 91 total submissions
Some data sources returned errors (2)

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

91 submitted variants in ClinVar

Classification Summary

VUS62
Likely Benign17
Benign2
62
VUS
17
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
1
61
0
0
62
Likely Benign
0
5
5
7
17
Benign
0
0
1
1
2
Total1666881

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

4 pathogenic / likely-pathogenic (of 5) ClinVar copy-number / structural variants overlap EFNA4-EFNA3 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

EFNA4-EFNA3 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →