Mutation Details for c.1444_1445insT

cDNA Name c.1444_1445insT 
Protein Name p.Lys483X 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name 1576insT 
Other Details  
Contributors Férec C   2000-09-22
Institute Laboratoire de Biogénétique, University of Brest Brest, France 
Submitted Phenotype Details The mutation was identified in a French CF patient (male, 19y) diagnosed at 2 months of age, being PI and having positive sweat tests. He carries deltaF508 on the other allele. (pers. corr. Ferec) 
Reference Férec 2000 

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The Database was last updated at Apr 25, 2011