Table 3.

Notable PRSS1 Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_002769​.4
NP_002760​.1 		c.47C>Tp.Ala16ValLow-penetrance pathogenic variant
c.86A>Tp.Asn29IleTogether these variants account for ~90% of individuals w/molecularly confirmed PRSS1-related hereditary pancreatitis [Rebours et al 2009].
c.365G>Ap.Arg122His
c.364C>Tp.Arg122CysLow-penetrance pathogenic variant

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

From: PRSS1-Related Hereditary Pancreatitis

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