Mutation Details for c.(?_1767)_(2490_?)del

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

cDNA Name c.(?_1767)_(2490_?)del 
Exon or Intron exon 15 
Legacy Exon or Intron exon 14a 
Legacy Name CFTRdele14a 
Other Details The above mutation was found in a homozygous patient from a Persian family. The patient has pancreatic insufficiency, elevated sweat cholride concentrations, and pulmonary disease. 
Contributors Egan M, Macek M Jr, Cutting G R   1996-01-11
Institute John Hopkins University, Baltimore, USA 
Submitted Phenotype Details  
Reference Egan et al. (NL#68) 

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The Database was last updated at Apr 25, 2011