Mutation Details for c.842T>C

cDNA Name c.842T>C 
Protein Name p.Met281Thr 
Exon or Intron exon 7 
Legacy Exon or Intron exon 6b 
Legacy Name M281T 
Other Details This change has been detected by SSCP/HD analysis and direct sequencing. 
Contributors T. Casals, J. Gimenez, MD. Ramos, L. Aparisi   2002-01-01
Institute CGMM-IRO Barcelona, Spain Hospital Clinic Valencia, Spain 
Submitted Phenotype Details The patient (male, 38y) presented chronic pancreatitis, PS and sweat test 62mMol/L. No other mutation was identified. 

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The Database was last updated at Apr 25, 2011