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EIF3G

Synonyms
EIF3-P42, EIF3S4, eIF3-delta, eIF3-p44
External resources
Summary
This gene encodes a core subunit of the eukaryotic translation initiation factor 3 (eIF3) complex, which is required for initiation of protein translation. An N-terminal caspase cleavage product of the encoded protein may stimulate degradation of DNA. A mutation in this gene is associated with narcolepsy.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
5
Likely pathogenic
0
VUS
3,405
Likely benign
679
Benign
0

Patient phenotypes

Proportions of phenotypes among 5 patients carring pathogenic or likely pathogenic variants on EIF3G gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
60%
Abnormality of the musculoskeletal system
40%
Abnormality of the nervous system
40%
Abnormality of head or neck
20%
Abnormality of limbs
20%
Abnormality of prenatal development or birth
20%
Abnormality of the cardiovascular system
20%
Abnormality of the genitourinary system
20%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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