Mutation Details for c.1397_1571delCACTTCTAATGATGATTATGGGAGAACTGGAGCCTTCAGAGGGTAAAATTAAGCACAGTGGAAGAATTTCATTCTGTTCTCAGTTTTCCTGGATTATGCCTGGCACCATTAAAGAAAATATCATCTTTGGTGTTTCCTATGATGAATATAGATACAGAAGCGTCATCAAAGCATG

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

cDNA Name c.1397_1571delCACTTCTAATGATGATTATGGGAGAACTGGAGCCTTCAGAGGGTAAAATTAAGCACAGTGGAAGAATTTCATTCTGTTCTCAGTTTTCCTGGATTATGCCTGGCACCATTAAAGAAAATATCATCTTTGGTGTTTCCTATGATGAATATAGATACAGAAGCGTCATCAAAGCATG 
Protein Name p.Leu467AsnfsX2 
Exon or Intron  
Other Details Deletion was found by NGS CFTR Devyser kir, confirmed with MLPA MRC Holland 
Contributors and Institutes
mgr. Malgorzata Libik, PhD,Faculty Hospital Motol, Czech Republic,Dr. Danijela, Radivojevic – IMMGE Belgrade, Serbia - Prof. Milan Macek PhD,Faculty Hospital Motol, Czech Republic
  
Submitted Phenotype Details Patient from Serbia, with D1152H on the second allele. 
Reference  

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The Database was last updated at Apr 25, 2011