Mutation Details for c.3400_3401delACinsGTA

cDNA Name c.3400_3401delACinsGTA 
Protein Name p.Thr1134Ala 
Exon or Intron exon 21 
Legacy Exon or Intron exon 18 
Legacy Name 3532AC->GTA 
Other Details This complex mutation was found by DGGE and identified by direct DNA sequencing in CF patient from Southern France. The patient carries [delta]F508 on the other CF chromosome. 
Contributors Claustres M, Des Georges M   1998-08-04
Institute Institut de Biologie Montpellier, France 
Submitted Phenotype Details The mutation was found in a 12 years old female patient diagnosed at 2 years and 6 months, PI, with positive sweat chloride and mild lung disease. The patient carries [delta]F508 on the other CF chromosome.(pers. corr. Claustres) 
Reference Claustres & Des Georges (NL#70) 

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The Database was last updated at Apr 25, 2011