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CTRB1

Synonyms
CTRB
External resources
Summary
This gene encodes a member of the serine protease family of enzymes and forms a principal precursor of the pancreatic proteolytic enzymes. The encoded preproprotein is synthesized in the acinar cells of the pancreas and secreted into the small intestine where it undergoes proteolytic activation to generate a functional enzyme. This gene is located adjacent to a related chymotrypsinogen gene. This gene encodes distinct isoforms, some or all of which may undergo similar processing to generate the mature protein.

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
3,377
Likely benign
3,600
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on CTRB1 gene.

Phenotype class
Patients in 3billion (%)

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