Mutation Details for c.3140-54_3140-649del

cDNA Name c.3140-54_3140-649del 
Exon or Intron intron 19 
Legacy Exon or Intron intron 17a 
Legacy Name 3272-54del704 
Other Details There is a new deletion detected in a CF patient of Italian origin. The deletion spans over 704 bp from 3272-54 to 3499+422 bp, removing exon 17b. This deletion has been identified on the paternal CF chromosome in a patient having pancreatic insufficiency and bearing the [delta]F508 mutation on the maternal chromosome. 
Contributors Ferrari M, Magnani C, Magnaghi P, Taramelli R   1994-10-06
Institute Istituto di Ricovero e Cura a Caraterre Scientifico Milano, Italy 
Submitted Phenotype Details The 27-year old female, diagnosed when 10 years old, carried deltaF508 on the other allele. She went under lung transplant for severe lung disease. She had sweat chloride 143 mmol/l. (pers. corr. Cremonesi) 
Reference Ferrari et al. (NL#63) 

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The Database was last updated at Apr 25, 2011