Mutation Details for c.112_113delTA

cDNA Name c.112_113delTA 
Protein Name p.Tyr38ProfsX6 
Exon or Intron exon 2 
Legacy Exon or Intron exon 2 
Legacy Name 244delTA 
Other Details This mutation creates a premature stop 6 codons downstream. The CF patient is French and has R553X on the other CF chromosome. This mutation was found once out of 1460 CF chromosomes screened. 
Contributors Chevalier-Porst F, Bozon D   1998-07-13
Institute Biochimie, Bat D, Hopital Debrousse, Lyon, France 
Submitted Phenotype Details The mutation was found in a CF patient (male, 3 years old) diagnosed at 5 months of age. He has sweat chloride 101 mmol/l and is PI. He carries R553X on the other allele.(pers. corr. Bozon) 
Reference Chevalier-Porst & Bozon (NL#70) 

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The Database was last updated at Apr 25, 2011