Mutation Details for c.1196C>T

cDNA Name c.1196C>T 
Protein Name p.Ala399Val 
Exon or Intron exon 9 
Legacy Exon or Intron exon 8 
Legacy Name A399V 
Other Details This mutation was detected in one of the CFTR alleles of a 15-year old Japanese female patient with disseminated bronchiectasis. She is pancreatic sufficient, and her sweat chloride level was normal (27 mmol/L), and no other CFTR mutation was found despite the extensive search.  
Contributors Yoshimura K, Azuma A   2000-02-02
Institute Department of Gene Therapy Institute of DNA Medicine Jikei University School of Medicine Tokyo, Japan  
Submitted Phenotype Details Patient (F) is 14y, has PS, moderate lung disease (diffuse bronchiectasis), sweat-chloride is 10.7mM/l. No other mutations were found. (pers. corr. Yoshimura) 
Reference Yoshimura & Azuma 2000 

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The Database was last updated at Apr 25, 2011