Mutation Details for c.3299A>C

cDNA Name c.3299A>C 
Protein Name p.Gln1100Pro 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name Q1100P 
Other Details The mutation was found in one spanish CF chromosome among 98 non-[delta]F508 analyzed. The patient a 23 year old man carrying the [delta]F508 on the other chromosome. He was diagnosed by the age of 3 and is now PI and has colonization with Pseudomonas aeurginosa. The mutation has been identified by DGGE and direct sequencing. 
Contributors Ferec C, Audrezt MP< Mercier B, Nunes V, Palacio A, Estivill X   1993-05-17
Institute Institut de Recerca Oncologica 
Submitted Phenotype Details One CF patient (20, male) diagnosed at 3 yrs,no meonium ileus, PI, sweat chloride of 110 mmol/l, lung disease with Pseudomonas lung colonization. (pers. corr. Nunes) 
Reference Nunes et al. (NL#55) 

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The Database was last updated at Apr 25, 2011