Mutation Details for c.1433_1434delCA

cDNA Name c.1433_1434delCA 
Protein Name p.Ser478X 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name 1565 del CA 
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 12y) carries deltaF508 on the other allele; no clinical data available. 

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The Database was last updated at Apr 25, 2011