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CTTNBP2

Synonyms
C7orf8, CORTBP2, Orf4
External resources
Summary
This gene encodes a protein with six ankyrin repeats and several proline-rich regions. A similar gene in rat interacts with a central regulator of the actin cytoskeleton.

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
4,650
Likely benign
2,003
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on CTTNBP2 gene.

Phenotype class
Patients in 3billion (%)

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