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CTNNBIP1

Synonyms
ICAT
External resources
Summary
The protein encoded by this gene binds CTNNB1 and prevents interaction between CTNNB1 and TCF family members. The encoded protein is a negative regulator of the Wnt signaling pathway. Two transcript variants encoding the same protein have been found 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
534
Likely benign
27
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on CTNNBIP1 gene.

Phenotype class
Patients in 3billion (%)

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