Mutation Details for c.131A>G

cDNA Name c.131A>G 
Protein Name p.Asp44Gly 
Exon or Intron exon 2 
Legacy Exon or Intron exon 2 
Legacy Name D44G 
Other Details This mutation was found once among 31 [delta]F508, 63 Cf non-[delta]F508 and 37 normal chromosomes analyzed. 
Contributors Fanen P, Ghanem N, Goossens M   1991-04-30
Institute Unite de Recherches en Genetiqueo Moleculaire et en Hematologie Creteil, France 
Submitted Phenotype Details The patient (16y, F) was diagnosed with CF at <1y, is PI, has mild pulmonary symptoms and 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