Mutation Details for c.3469_3716dupATGCGATCTGTGAGCCGAGTCTTTAAGTTCATTGACATGCCAACAGAAGGTAAACCTACCAAGTCAACCAAACCATACAAGAATGGCCAACTCTCGAAAGTTATGATTATTGAGAATTCACACGTGAAGAAAGATGACATCTGGCCCTCAGGGGGCCAAATGACTGTCAAAGATCTCACAGCAAAATACACAGAAGGTGGAAATGCCATATTAGAGAACATTTCCTTCTCAATAAGTCCTGGCCAGAG

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.3469_3716dupATGCGATCTGTGAGCCGAGTCTTTAAGTTCATTGACATGCCAACAGAAGGTAAACCTACCAAGTCAACCAAACCATACAAGAATGGCCAACTCTCGAAAGTTATGATTATTGAGAATTCACACGTGAAGAAAGATGACATCTGGCCCTCAGGGGGCCAAATGACTGTCAAAGATCTCACAGCAAAATACACAGAAGGTGGAAATGCCATATTAGAGAACATTTCCTTCTCAATAAGTCCTGGCCAGAG 
Protein Name p.Val1240CysfsX4 
Exon or Intron  
Other Details Duplication found by NGS CFTR Devyser kit, confirmed by MLPA MRCA Holland 
Contributors and Institutes
mgr. Malgorzata Libik, PhD, Faculty Hospital Motol,Czech Republic, Dr. Jadranka Sertic – Zagreb Medical University, Crotia,Prof. Milan Macek, Faculty Hospital Motol, Czech Republic -
  
Submitted Phenotype Details Croatian patient, F508del on the second allele. 
Reference  

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The Database was last updated at Apr 25, 2011