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SERPINB9

Synonyms
CAP-3, CAP3, PI-9, PI9
External resources
Summary
This gene encodes a member of the serine protease inhibitor family which are also known as serpins. The encoded protein belongs to a subfamily of intracellular serpins. This protein inhibits the activity of the effector molecule granzyme B. Overexpression of this protein may prevent cytotoxic T-lymphocytes from eliminating certain tumor cells. A pseudogene of this gene is found on chromosome 6.

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
1,762
Likely benign
377
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SERPINB9 gene.

Phenotype class
Patients in 3billion (%)

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