Mutation Details for c.535C>T

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

cDNA Name c.535C>T 
Protein Name p.Gln179X 
Exon or Intron  
Other Details A heterozygous p.Phe508del mutation had been previously identified using OLA, DNA from the parents was not available for segregation analysis. 
Contributors and Institutes error reading database  
Submitted Phenotype Details Male patient, age at diagnosis 6 1/2 ys. The family is of German origin. Negative family history, no consanguinity reported. Pathological sweat test and pancreatic insufficiency.  

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The Database was last updated at Apr 25, 2011