Mutation Details for c.273+4A>G

cDNA Name c.273+4A>G 
Exon or Intron intron 3 
Legacy Exon or Intron intron 3 
Legacy Name 405+4A->G 
Other Details This possible splice mutation was identified by DGGE and direct sequencing. 
Contributors Costes B, Auloge L, Ghanem N, Goossens M   1993-03-22
Institute Laboratoire de Biochimie Creteil, France 
Submitted Phenotype Details The 405+4A->G mutation was found in a 19 year-old female CF patient diagnosed before the age of 8 with PS, positive sweat chloride and mild pulmonary symptoms and nasal polyposis. (pers. corr. Girodon)  
Reference Ghanem et al. 1994 

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The Database was last updated at Apr 25, 2011