Mutation Details for c.561C>A

cDNA Name c.561C>A 
Protein Name p.Asn187Lys 
Exon or Intron exon 5 
Legacy Exon or Intron exon 5 
Legacy Name N187K 
Other Details The mutation was detected by SSCP analysis and direct sequencing. The mutation was found in a patient affected with chronic pancreatitis, no other mutation has been identified in the patient. 
Contributors Arduino C, Ferrone M, Brusco A, Piana M R, Migone N   1998-11-11
Institute U.O. Genetica Medica Torino, Italy 
Submitted Phenotype Details The patient (male, 37) was diagnosed at 29, is PI with chronic pancreatitis and has no lung disease. (pers.corr.Arduino) 
Reference Arduino et al. 1998 

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The Database was last updated at Apr 25, 2011