Mutation Details for c.174_175insA

cDNA Name c.174_175insA 
Protein Name p.Arg59LysfsX10 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name 306insA 
Other Details A new mutation was identifeied by DGGE and direct sequencing: 306insA in exon 3. The patient is homzygous for this mutation. A consanguinity has been detected in this family. 
Contributors Ferec C, Quere I, Verlingue C, Raguenes O, Audrezet M-P, Mercier B   1994-01-31
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The French CF patient (female, 27y) is homozygous for 306insA. She is PI. (pers.corr. Ferec) 
Reference FĂ©rec et al. (NL#61) 

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The Database was last updated at Apr 25, 2011