Mutation Details for c.3009_3017delAGCTATAGC

cDNA Name c.3009_3017delAGCTATAGC 
Protein Name p.Ala1004_Ala1006del 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name 3141del9 
Other Details This deletion was found in 3 unrelated Czech CF families with the classical form of the disease. Patient genotypes comprised ? 2x F508del/3141del9 and 1x 574delA/3141del9 (pers. communication Dr. Vavrova and Dr. Honomichlova)  
Contributors Stambergova A, Soldatova I, Krepelova A, Zemkova D, Vavrova V, Honomichlova H, Macek Jr. M.    2005-07-13
Institute Institute of Biology and Medical Genetics ? National CF Centre, Charles University Prague and UH Motol, Czech Republic  
Submitted Phenotype Details Classical form of the disease.  

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The Database was last updated at Apr 25, 2011