rs955053963

This variant is located in the SPINK1 gene.

ClinVar annotation

Likely Benign☆☆☆
1 submitter1 publication

Hereditary pancreatitis

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About SPINK1

The protein encoded by this gene is a trypsin inhibitor, which is secreted from pancreatic acinar cells into pancreatic juice. It is thought to function in the prevention of trypsin-catalyzed premature activation of zymogens within the pancreas and the pancreatic duct. Mutations in this gene are associated with hereditary pancreatitis and tropical calcific pancreatitis. [provided by RefSeq, Oct 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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