Mutation Details for c.3718-79T>C

cDNA Name c.3718-79T>C 
Exon or Intron intron 22 
Legacy Exon or Intron intron 19 
Legacy Name 3850-79T/C 
Other Details No additional information is available. 
Contributors Chevalier-Porst F, Bozon D   1997-10-28
Institute Biochimie, Bat D, Hopital Debrousse, Lyon, France 
Submitted Phenotype Details 3850-79T/Cwas found in a male, PS, with nolung disease, CBAVD. 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. (pers. corr. Bozon)  
Reference Chevalier-Porst & Bozon (NL#70) 

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The Database was last updated at Apr 25, 2011