Variant: rs111033564

present in Gene: PRSS1 present in Chromosome: 7 Position on Chromosome: 142751808 Alleles of this Variant: G/A

rs111033564 in PRSS1 gene and Hereditary pancreatitis PMID 11788572 2002 Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis.

PMID 10204851 1999 Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis.

PMID 10381903 1999 A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis.

PMID 10930381 2000 Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin activation.

PMID 11866271 2002 Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of further trypsinogen variants.

PMID 11073545 2000 A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis.

PMID 9633818 1998 Mutations of the cationic trypsinogen in hereditary pancreatitis.

PMID 14695529 2004 To challenge this notion, here we describe the unique properties of the E79K cationic trypsinogen mutation (c.235G>A), which was identified in three European families affected by sporadic or familial pancreatitis cases.

PMID 8841182 1996 Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.

PMID 9322498 1997 Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis.

PMID 15776435 2005 Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl.