Mutation Details for c.3718-1G>A

cDNA Name c.3718-1G>A 
Exon or Intron intron 22 
Legacy Exon or Intron intron 19 
Legacy Name 3850-1G->A 
Other Details A splice mutation at the 3' end of intron 19, 3850 - 1 G->A, was observed on three chromosomes of French origin. These mutations have been found by DGGE and DNA sequencing. 
Contributors Audrezet MP, Guillermit H, Mercier B, Quere I, Verlingue C, Ferec C   1992-02-03
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was found in a French CF patient (female, 16y) diagnosed at 6 m, carrying R347H on the other allele. (pers.corr. Ferec) 
Reference Audr├ęzet et al. 1993a 

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The Database was last updated at Apr 25, 2011