rs2536005076

This variant is located in the CPA1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Hereditary pancreatitis

About CPA1

This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. This enzyme is produced in the pancreas and preferentially cleaves C-terminal branched-chain and aromatic amino acids from dietary proteins. This gene and several family members are present in a gene cluster on chromosome 7. Mutations in this gene may be linked to chronic pancreatitis, while elevated protein levels may be associated with pancreatic cancer. [provided by RefSeq, Jan 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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