Home > Gene Browser > EIF3CL

EIF3CL

Synonyms
-
External resources
Summary
The protein encoded by this gene is a core subunit of the eukaryotic translation initiation factor 3 (eIF3) complex. The encoded protein is nearly identical to another protein, eIF3c, from a related gene. The eIF3 complex binds the 40S ribosome and mRNAs to enable translation initiation. Several transcript variants encoding the same protein have been found for this gene.

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
4
Likely pathogenic
67
VUS
169
Likely benign
0
Benign
0

Patient phenotypes

Proportions of phenotypes among 70 patients carring pathogenic or likely pathogenic variants on EIF3CL gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
47.1%
Abnormality of the nervous system
44.3%
Abnormality of head or neck
41.4%
Abnormality of the eye
35.7%
Growth abnormality
21.4%
Abnormality of the cardiovascular system
17.1%
Abnormality of limbs
15.7%
Abnormality of the ear
12.9%
Abnormality of the integument
11.4%
Abnormality of the genitourinary system
7.1%
Abnormality of the immune system
5.7%
Abnormality of blood and blood-forming tissues
4.3%
Abnormality of the endocrine system
2.9%
Abnormality of the respiratory system
2.9%
Abnormality of the digestive system
1.4%
Constitutional symptom
1.4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes