Mutation Details for c.3584A>C

cDNA Name c.3584A>C 
Protein Name p.Asn1195Thr 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name N1195T 
Other Details  
Contributors Savov A.   2002-01-01
Institute Laboratory of Molecular Pathology, Sofia, Bulgaria 
Submitted Phenotype Details The mutation was identified in 23 years old male patient, diagnosed with CF at 12 years of age. He is PS, has moderate lung disease and sweat chloride 95-97 mmol/l. He was diagnosed with bronchiectasis as well. He carries G1244V and S912L on the other allele. (pers corr. Savov) 

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The Database was last updated at Apr 25, 2011