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EEF1G

Synonyms
EF1G, GIG35
External resources
Summary
This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit contains an N-terminal glutathione transferase domain, which may be involved in regulating the assembly of multisubunit complexes containing this elongation factor and aminoacyl-tRNA synthetases.

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
3,870
Likely benign
263
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on EEF1G gene.

Phenotype class
Patients in 3billion (%)

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