Mutation Details for c.3140-4A>G

cDNA Name c.3140-4A>G 
Exon or Intron intron 19 
Legacy Exon or Intron intron 17a 
Legacy Name 3272-4A->G 
Other Details This mutation is probably an mRNA splicing mutation in intron 17a - 3272-4A->G. We have screened 100 CF heterozygotes (parents of CF patients) for this particular sequence variation and have not found any other sample with this mutation, indicating that it is not a polymorphism. The CF patient with the mutation is compound heterozygous with R117H on ther other allele.  
Contributors Kanvakis    1994-07-13
Institute Athens University Athens, Greec 
Submitted Phenotype Details The male CF patient diagnosed when 8 years old, died at 22 years of age. He was PI, had sweat chloride 105 mmol/l and severe lung disease with FEV1 18% and Pseudomonas Aeruginosa infections. He carried R117H (pers. corr. Tzetis) 
Reference Kanvakis (NL#63) 

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The Database was last updated at Apr 25, 2011