Mutation Details for c.1984_1987delCTAA

cDNA Name c.1984_1987delCTAA 
Protein Name p.Thr663ArgfsX8 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2116delCTAA 
Other Details This mutation was detected by DGGE analysis followed by direct sequencing in a CF patient carrying [delta]F508 in the other chromosome. It was found once out of 800 Italian CF chromosomes and 100 control chromosomes from Italian population.  
Contributors Seia M, Padoan R, Cantù A, Giunta A   1999-09-23
Institute Lab. Genetica Molecolare, Centro Fibrosi Cistica, ICP e Università degli Studi, Italy 
Submitted Phenotype Details Clinical features of patient:female, severe lung disease, pancreatic insufficiency, death at 5yrs for respiratory insufficiency. Diagnosed at the age of 2yrs, with a sweat test of 92mEq/l chloride. She carried deltaF508 on the other allele. (pers. corr. Padoan) 
Reference Seia et al. 1999 

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The Database was last updated at Apr 25, 2011