Mutation Details for c.3063_3068delAGTGAT

cDNA Name c.3063_3068delAGTGAT 
Protein Name p.Ile1023_Val1024del 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name 3195del6 
Other Details  
Contributors Claustres et al. 1994   1994-01-01
Institute Laboratoire de Biochimie Genetique Montpellier, France  
Submitted Phenotype Details The 17 years old male CF patient was diagnosed at 5years of age. He is PI, has severe lung disease with PA infections. He carries 394delTT on the other allele. (Romey et al. 1996 and pers. corr Claustres) 
Reference Claustres et al. 1994 

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The Database was last updated at Apr 25, 2011