Mutation Details for c.3717+5G>A

cDNA Name c.3717+5G>A 
Exon or Intron intron 22 
Legacy Exon or Intron intron 19 
Legacy Name 3849+5G->A 
Other Details The mutation was detected by DGGE and DNA sequencing. The patient was homozygous for the mutation. His sweat chloride was 100 meq/l. He showed gastrointestinal symptoms and lung disease at age of 40 days. 
Contributors Kilinc O, Demirkol M, Baykal T, Tolun A   1997-08-12
Institute Bogazici University Istanbul, Turkey 
Submitted Phenotype Details The homozygous male patient was diagnosed at 2 months of age for GI symptoms. He is PI, has severe lung disease and sweat chloride 100 mmol/l.(pers. corr. Kilinc) 
Reference Kilinc et al. (NL#70) 

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The Database was last updated at Apr 25, 2011