Mutation Details for c.1785G>A

cDNA Name c.1785G>A 
Protein Name p.Met595Ile 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name M595I 
Other Details This mutation was identified by sequencing on one Spanish patient with suspect of a mild form of CF with "allergic rhinitis-bronchial asthma" who also had [delta]F508 mutation. It had never been observed ina 230 chromosomes of previously sequenced Galician subjects.  
Contributors Rana-Diez P, Barros F, Sirvent J, Carracedo A.   2007-02-09
Institute Fundacion publica Galega de Medicina Xenomica 
Submitted Phenotype Details The patient (male, 15y) was diagnosed with "allergic rhinitis-bronchial asthma" plus sensitivity to dust mites at 8y, with high sweat chloride test determination(>90mEq/L). He does not present clinical signs of respiratory infection or digestive pathology. He only presents sporadic episodes of bronchial asthma. 

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The Database was last updated at Apr 25, 2011