Mutation Details for c.1016_1018del

cDNA Name c.1016_1018del 
Protein Name p.Thr339del 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name [delta]T339 
Other Details The mutation was identified by DGGE and direct sequencing 
Contributors Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.   2006-07-18
Institute Lab. Genetica Molecolare Dip Pediatria, Padova,Italy 
Submitted Phenotype Details The Italian CF patient (F), has severe lung disease and high sweat chloride, carries N1303K on the other allele. 

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The Database was last updated at Apr 25, 2011