Mutation Details for c.2013_2015delAGA

cDNA Name c.2013_2015delAGA 
Protein Name p.Glu672del 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name E672del 
Other Details This mutation was found by DGGE and identified by direct sequencing in a lebanese family. It does not modify a RS. 
Contributors Claustres M, Guittard C, Desgorges M, Carles S   1996-10-28
Institute Institut de Biologie Montpelier 
Submitted Phenotype Details The 4years old male patient was diagnosed with CF at 4 years of age. He is PI, has sweat chloride 68 mmol/l and no lung involvment. No other CFTR mutation was found. (pers corr. Claustres and Desgeorges et al. 1997) 
Reference Claustres et al. (NL#69) 

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The Database was last updated at Apr 25, 2011