Mutation Details for c.673T>C

cDNA Name c.673T>C 
Protein Name p.Cys225Arg 
Exon or Intron exon 6 
Legacy Exon or Intron exon 6a 
Legacy Name C225R 
Other Details This mutation was found on one CF chromosome, in association with haplotype D. The patient (13 years old) is compound heterozygote. He carries [delta]F508 on the other chormosome and has pancreatic insufficiency. 
Contributors Goossens M, Fanen P, Ghanem N   1991-07-11
Institute Unite de Recherches en Genetique Moleculaire et en Hematologie Creteil, France 
Submitted Phenotype Details The mutation is reportedly associated with pancreatic insufficiency, and with mild and unusual lung disease. The mutation was identified in a 13 years old patient carrying deltaF508 on the other allele also diagnosed with asthma. (Fanen et al. 1997) The C225R mutation was found in a 25y, male patient diagnosed at <10y, PI, with mild pulmonary disease (asthma). He carries deltaF508 on the other allele. (pers. corr. Girodon)  
Reference Fanen et al. 1992 

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The Database was last updated at Apr 25, 2011