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EDC3

Synonyms
LSM16, MRT50, YJDC, YJEFN2, hYjeF_N2-15q23
External resources
Summary
This gene encodes a protein that is important in mRNA degradation. The encoded protein is a component of a decapping complex that promotes efficient removal of the monomethylguanosine (m7G) cap from mRNAs, as part of the 5' to 3' mRNA decay pathway. Mutations in this gene have been identified in human patients with an autosomal recessive form of intellectual disability.

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
1,889
Likely benign
3,167
Benign
33

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on EDC3 gene.

Phenotype class
Patients in 3billion (%)

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