Mutation Details for c.3963+2t>A

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.3963+2t>A 
Exon or Intron intron 24 
Other Details This change has been detected by DGGE analysis and direct sequencing in one Spanish CF chromosome 
Contributors and Institutes
MD. Ramos - CGMM-IDIBELL. Barcelona. Spain
J. Gimenez - CGMM-IDIBELL. Barcelona. Spain
T. Casals - CGMM-IDIBELL. Barcelona. Spain
Submitted Phenotype Details The Sapnish patient (male, 8y, genotype [F508del] + [4095+2T>A]) was diagnosed at 2y. He is Pancreatic insufficient and positive for lung colonization Ps. Aeruginosa. (pers. corr. T. Casals) 

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The Database was last updated at Apr 25, 2011