Mutation Details for c.2687_2690delCTCAinsTGAGTACTATGAG

cDNA Name c.2687_2690delCTCAinsTGAGTACTATGAG 
Protein Name p.Thr896IlefsX9 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name 2819del4bpins13bp 
Other Details This sequence variation was detected by DGGE and identified by direct sequencing This mutation was identified on two Italian CF chromosome It was found twice out of 1800 control chromosomes from Italian population. 
Contributors Picci, L, Cameran M, Scarpa M,   2004-06-16
Institute Lab. Genetica Molecolare Dipartimento di Pediatria, Padova, Italy 
Submitted Phenotype Details The mutation was found in two patients: 35 years mals diagnosed with CBAVD and oligosperm (no lung disease and normal sweat chloride) they carries 125 g/c sequence variation The pancreatic status (sufficient/nonsufficient) is unknown. 

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The Database was last updated at Apr 25, 2011