Mutation Details for c.721G>A

cDNA Name c.721G>A 
Protein Name p.Gly241Arg 
Exon or Intron exon 6 
Legacy Exon or Intron exon 6a 
Legacy Name G241R 
Other Details Identified by DGGE and direct sequencing. 
Contributors Férec C, Verlingue C, Mercier B, Quere I   1996-07-31
Institute Laboratoire de Biogénétique, Brest, France 
Submitted Phenotype Details The mutation was identified in a patient with disseminated bronchiectasis. (pers. corr. Ferec) 
Reference Férec et al. (NL#69) 

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The Database was last updated at Apr 25, 2011