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ECE2

Synonyms
EEF1AKMT4
External resources
Summary
This gene represents naturally occurring readthrough transcription between adjacent genes eukaryotic translation elongation factor 1 alpha lysine methyltransferase 4 (GeneID: 110599564) and endothelin converting enzyme 2 (GeneID:9718). The readthrough transcript representing this gene encodes a fusion protein that shares sequence identity with each individual gene product.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
2,525
Likely benign
2,025
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ECE2 gene.

Phenotype class
Patients in 3billion (%)

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