Mutation Details for c.293A>C

cDNA Name c.293A>C 
Protein Name p.Gln98Pro 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name Q98P 
Other Details This mutation was found by DHPLC and confirmed by sequencing. The adult male patient, from Southern Sweden, carries deltaF508 on the other chromosome. The patient has high sweat chloride (116 mmol/L), bronchiectasis and CBAVD. 
Contributors Bjorck E, Fallstrom M, Kentson M   2001-08-21
Institute Sahlgrenska University Hospital / East Gothenburg, Sweden County Hospital Ryhov Jonkoping, Sweden 
Submitted Phenotype Details One patient (36, male) diagnosed at 35 (CBAVD and bronchioectasis)is PS, has moderate lung disease, sweat chloride 116 mmol/l. Del F508 on the other allele. (Pers.corr. Bjorck) 
Reference Bjorck et al. 2001 

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The Database was last updated at Apr 25, 2011