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SNP information rs193922659

RS193922659

Normal allele: GG

Variants of a signalling peptide that disrupts pancreatic secretory trypsin inhibitor (SPINK1) secretion cause hereditary autosomal dominant pancreatitis.

Polymorphism rs193922659 is related to topics like this:

Hereditary pancreatitis

Pancreatitis is a multifaceted ailment that can stem from various sources. If pancreatitis arises...

Research and publications:

  14722925   Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis.

  16823394   Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene.

  16981266   Association of rare SPINK1 gene mutation with another base substitution in chronic pancreatitis patients.

  17274009   Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis.

  17568390   Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.

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