Mutation Details for c.2562delT

cDNA Name c.2562delT 
Protein Name p.Val855SerfsX5 
Exon or Intron exon 15 
Legacy Exon or Intron exon 14a 
Legacy Name 2694delT 
Other Details The mutation was detected by DGGE analysis and direct sequencing. The mutation was found in a patient affected with cystic fibrosis with the following genotype : Y517C/2694delT. The 2694delT mutation was inherited from the mother and the Y517C from the father. The mutation creates a site for TaiI. 
Contributors Arduino C, Salmin P, Brusco A, Gerbino G, Migone N   2000-12-21
Institute U.O. Genetica Medica, Torino, Italy 
Submitted Phenotype Details The 8-year old female patient was diagnosed with CF at birth with meconium ileus. She is PI and has sweat chloride 93 mmol/l. (pers. corr. Arduino) 
Reference Arduino et al. 2000 

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The Database was last updated at Apr 25, 2011