Mutation Details for c.4242+1G>T

cDNA Name c.4242+1G>T 
Exon or Intron intron 26 
Legacy Exon or Intron intron 23 
Legacy Name 4374+1G->T 
Other Details null 
Contributors Dork T, Kalin N, Tummler B   1991-09-20
Institute Medizinische Hochschule Hannover Hannova, Germany  
Submitted Phenotype Details The patient (male, 17y) was diagnosed at 3.2 years with CF. He is PI, has mild lung disease (FEV1 94%) and sweat chloride 85-100 mmol/l. He carries DeltaF508 on the other allele. (pers.corr. Doerk) 
Reference Dörk et al. (NL #38) 

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The Database was last updated at Apr 25, 2011