Mutation Details for c.105_106insA

cDNA Name c.105_106insA 
Protein Name p.Asp36ArgfsX9 
Exon or Intron exon 2 
Legacy Exon or Intron exon 2 
Legacy Name 237insA 
Other Details The above mutation was detected by DGGE and identified direct sequencing. 
Contributors Férec C, Verlingue C, Quere I, Raguenez O, Audrézet M-P, Mercier B   1995-06-08
Institute Centre de Transfusion Sanguine et de Biogénétique, Brest, France 
Submitted Phenotype Details The French CF patient (female, 8y) was diagnosed at birth. Sweat chloride was 75-80 mmol/l. She carries DeltaF508 on the other allele. (pers.corr. Ferec) 
Reference Férec et al. (NL#66) 

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The Database was last updated at Apr 25, 2011