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CBLL1

Synonyms
HAKAI, RNF188
External resources
Summary
This gene encodes an E3 ubiquitin-ligase for the E-cadherin complex and mediates its ubiquitination, endocytosis, and degradation in the lysosomes. The encoded protein contains a RING-finger domain and is also thought to have a role in control of cell proliferation. A related pseudogene has been identified on chromosome X. Alternative splicing results in a non-coding transcript variant.

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
1,622
Likely benign
35
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on CBLL1 gene.

Phenotype class
Patients in 3billion (%)

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