Mutation Details for c.2508delT

cDNA Name c.2508delT 
Protein Name p.Asp836GlufsX8 
Exon or Intron exon 15 
Legacy Exon or Intron exon 14a 
Legacy Name 2640delT 
Other Details This mutation was found by DGGE and identified by DNA sequencing in a CF child from Southern France. The patient carries N1303K on the other CF chromosome. 
Contributors Claustres M, Pallares N   1998-08-04
Institute Institut de Biologie Montpellier, France 
Submitted Phenotype Details The mutation was found in a 3 years old female, diagnosed at birth with meconium ileus. She is PS, has severe lung disease and positive sweat chloride. She carries N1303K on the other allele. (pers. corr. Claustres) 
Reference Claustres & Pallares (NL#70) 

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The Database was last updated at Apr 25, 2011