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CBLC

Synonyms
CBL-3, CBL-SL, RNF57
External resources
Summary
This gene encodes a member of the Cbl family of E3 ubiquitin ligases. Cbl proteins play important roles in cell signaling through the ubiquitination and subsequent downregulation of tyrosine kinases. Expression of this gene may be restricted to epithelial cells, and alternatively spliced transcript variants encoding multiple isoforms have been observed 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
12
Likely pathogenic
5
VUS
2,593
Likely benign
1,411
Benign
0

Patient phenotypes

Proportions of phenotypes among 17 patients carring pathogenic or likely pathogenic variants on CBLC gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35.3%
Abnormality of the eye
23.5%
Abnormality of the musculoskeletal system
23.5%
Abnormality of the cardiovascular system
17.6%
Abnormality of head or neck
11.8%
Abnormality of limbs
11.8%
Abnormality of the digestive system
11.8%
Abnormality of the ear
11.8%
Abnormality of the genitourinary system
11.8%
Growth abnormality
11.8%
Abnormality of the endocrine system
5.9%
Abnormality of the integument
5.9%
Constitutional symptom
5.9%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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