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CACNB1

Synonyms
CAB1, CACNLB1, CCHLB1
External resources
Summary
The protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified.

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
7,038
Likely benign
2,496
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on CACNB1 gene.

Phenotype class
Patients in 3billion (%)

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