Mutation Details for c.3883delA

cDNA Name c.3883delA 
Protein Name p.Ile1295PhefsX33 
Exon or Intron exon 24 
Legacy Exon or Intron exon 21 
Legacy Name 4015delA 
Other Details A novel mutation was identified by DGGE and direct sequencing. This deletion was identified on one chromosome from a French CF patient. 
Contributors Ferec C, Quere I, Verlingue C, Raguenes O, Audrezet MP, Mercier B   1994-10-16
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The French CF patient (female) has sweat chloride of 111-138 mmol/l and carries deltaF508 on the other allele. (pers.corr. Ferec) 
Reference FĂ©rec et al. (NL#63) 

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The Database was last updated at Apr 25, 2011