Mutation Details for c.3021delT

cDNA Name c.3021delT 
Protein Name p.Val1008SerfsX15 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name 3153delT 
Other Details This mutation was identified by DGGE and direct sequencing on the paternal CF chromosome of a patient whose other chromosomes carries N1303K. It was found once among the 80 CF chromosomes screened for mutations in exon 17a. 
Contributors Balassopoulou A, Hatzipangiotou N Tzetis M, Antoniadi T, Kanavakis E   1995-11-02
Institute Laikon General Hospital Athens, Greece Athens University Greece 
Submitted Phenotype Details  
Reference Balassopoulou & Hatzipangiotou (NL#67); Tzetis et al (NL#67) 

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The Database was last updated at Apr 25, 2011