Mutation Details for c.3112C>T

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.3112C>T 
Protein Name p.Gln1038X 
Exon or Intron  
Other Details  
Contributors and Institutes
mg.Malgorzata Libik, PhD-Faculty Hospital Motol,Prague, Czech Republic, Dr. Iustina Stan-NSMC Alessandrescu Rusescu, Bucharest, Prof. Milan Macek-Faculty Hospital Motol,Prague, Czech Republic -
Submitted Phenotype Details 22 years old Romania patient, sweat test 70mmol/L, bronchiectasias, acute pankreatitis 

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The Database was last updated at Apr 25, 2011