Mutation Details for c.3139+183T>G

cDNA Name c.3139+183T>G 
Exon or Intron intron 19 
Legacy Exon or Intron intron 17a 
Legacy Name 3271+183 T to G 
Other Details This substitution was identified in a child suspect of CF but no other substitution could be identified. The diagnosis has not been confirmed and the impact of this substitution on splicing is not evident. 3271+183 T to G could be a polymorphism. 
Contributors Chevalier-Porst F, Bozon D   2000-04-25
Institute Biochimie Pediatrique Hopital Debrousse, Lyon France 
Submitted Phenotype Details 3271+183 T to G was found in an individual born 1998. 3271+183T/G : was not identified in a CF patient : this is also a polymorphism. (pers. corr. Bozon)  
Reference Chevalier-Porst & Bozon 2000 

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The Database was last updated at Apr 25, 2011