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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

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
2,634
Likely benign
3,616
Benign
0

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)

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