Mutation Details for c.4242+1G>A

cDNA Name c.4242+1G>A 
Exon or Intron intron 26 
Legacy Exon or Intron intron 23 
Legacy Name 4374+1G->A 
Other Details The mutation is found, associated with haplotype D, in a French patient having [delta]F508 on the other chromosome. We checked 66 non-[delta]F CF chromosomes and 42 N chromosomes, but did not see another example. This mutation was detected by denaturing gradient gel electrophoresis of PCR products, and identified by direct sequencing. In addition, the mutation abolishes a Hph I restriction site.  
Contributors Goossens M, Ghanem N, Fanen P, Vidaud M   1990-10-23
Institute Unite de Recherches en Genetique Mleculaire et en Hematologie Creteil, France 
Submitted Phenotype Details 4374+1G->Awas found in a 20y female CF patient, diagnosed at 1 month of age, also carrying F508del on the other allele. She is PI, with positive sweat chloride. (pers. corr. Girodon)  
Reference Fanen et al. 1992 

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The Database was last updated at Apr 25, 2011