Mutation Details for c.2506G>T

cDNA Name c.2506G>T 
Protein Name p.Asp836Tyr 
Exon or Intron exon 15 
Legacy Exon or Intron exon 14a 
Legacy Name D836Y 
Other Details This mutation was found in a French adult patient. The defect on the other chromosome is not yet characterized. 
Contributors Ghanem N, Goossens M   1992-06-29
Institute Centre Hospitalier Universitaire Henri Mondor Creteil, France 
Submitted Phenotype Details The mutation was found in a 30 year-old female, diagnosed at 29 years of age, PS, with severe lung disease and negative sweat chloride, nasal polyposis and infertility. (pers. corr. Girodon)  
Reference Ghanem & Goossens (NL#47) 

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The Database was last updated at Apr 25, 2011