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CACNB3

Synonyms
CAB3, CACNLB3
External resources
Summary
This gene encodes a regulatory beta subunit of the voltage-dependent calcium channel. Beta subunits are composed of five domains, which contribute to the regulation of surface expression and gating of calcium channels and may also play a role in the regulation of transcription factors and calcium transport.

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
3,785
Likely benign
1,310
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on CACNB3 gene.

Phenotype class
Patients in 3billion (%)

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