Mutation Details for c.3103C>T

cDNA Name c.3103C>T 
Protein Name p.Gln1035X 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name Q1035X  
Other Details This mutation was identified in one German CF chromosome. 
Contributors Nadja Bogdanova, Bernd Dworniczak, Jurgen Horst    2004-06-16
Institute Institute of Human Genetics, University of Muenster, Germany 
Submitted Phenotype Details The patient (29 years old) is compound heterozygous for F508 and Q1035X. Mild CF-phenotype, in Rš - cysts in the lungs. 

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The Database was last updated at Apr 25, 2011