Mutation Details for c.3139+101C>G

cDNA Name c.3139+101C>G 
Exon or Intron intron 19 
Legacy Exon or Intron intron 17a 
Legacy Name 3271+101C/G 
Other Details No further comment. 
Contributors Bozon D   1998-03-19
Institute Hopital Debrousse, Lyon, France 
Submitted Phenotype Details 3850-79T/C and 3271+101C/G were identified in a CBAVD patient who also had F508, 5T/9T, and many other SNP : P1290P, I1027T : but we do not know on which allele. We also think that these 2 changes are polymorphisms. The male individual was PS, with no lung disease. (pers. corr. Bozon) 
Reference Bozon (NL#70) 

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The Database was last updated at Apr 25, 2011