Mutation Details for c.1897C>A

cDNA Name c.1897C>A 
Protein Name p.Leu633Ile 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name L633I 
Other Details This mutation was detected by exon 13 sequencing in a Portuguese patient where no other mutation was identified, although the entire gene (exons and intronic boundaries) was analysed by DGGE and/or sequencing. 
Contributors Pacheco P, Loureiro P, Vaz L.   2006-05-12
Institute Instituto Nacional de Saúde, Centro de Genética Humana, Lisboa, Portugal 
Submitted Phenotype Details This mutation was detected in Portuguese male patient diagnosed with CF at 7 years of age with: growth delay, pancreatic insufficiency, FEV 52%, FVC 80%. Sweat tests in different years were: 1border-line, 1 positive and 1 negative. Presently with 16 years, the patient is not a typical CF case, having a great growth delay.  

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The Database was last updated at Apr 25, 2011