Mutation Details for c.1915G>T

cDNA Name c.1915G>T 
Protein Name p.Asp639Tyr 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name D639Y 
Other Details  
Contributors Aulehla-Scholz C   2002-01-01
Institute Institut für Klinische Genetik Stuttgart 
Submitted Phenotype Details The patient (female, 1y) was diagnosed at 10 months of age with severe CF. She is PI, has positice sweat chloride and had severe pneumonia.(pers. corr. Aulehla-Scholz) 

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The Database was last updated at Apr 25, 2011