Mutation Details for c.579+3A>T

cDNA Name c.579+3A>T 
Exon or Intron intron 5 
Legacy Exon or Intron intron 5 
Legacy Name 711+3A->T 
Other Details The above mutation was detected by DGGE and identified by direct sequencing. 711+3A->T was found in a Spanish woman with PS, carrying R334W in the other chromosome, and with 2 brothers died of CF. Screening in 132 CF patients was negative. 
Contributors Casals T, Ramos M D, Gimenez J, Nunes V, Estivill X   1995-08-03
Institute IRO, Spain 
Submitted Phenotype Details The mutation was identified in a 23 years old female patient diagnosed at 19, who is PS, has FEV193%, chronic cough and bronchiectasis, and sweat chloride 102 mmol/l. She carries R334W on the other allele. (pers. corr. Casals and Casals et al. 1997) 
Reference Casasl et al. (NL#67) 

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The Database was last updated at Apr 25, 2011