Mutation Details for c.2490+1G>T

cDNA Name c.2490+1G>T 
Exon or Intron intron 14 
Legacy Exon or Intron intron 13 
Legacy Name 2622+1G->T 
Other Details This splicing mutation was found in a young boy having a complete severe form of CF, and carrying R1162X on the other chromosome. 
Contributors Girodon E, Cazeneuve C, Sternberg D, Costes B, Goossens M   1999-11-23
Institute Service de Biochimie-Genetique Hopital Henri-Mondor, France 
Submitted Phenotype Details 2622+1G->T was found in a patient carrying R1162X on the other allele. The patient is a 15y male, diagnosed at 7y, PI, with moderate pulmonary symptoms, positive sweat chloride and nasal polyposis. (pers. corr. Girodon)  
Reference Girodon et al. 1999 

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The Database was last updated at Apr 25, 2011