Mutation Details for c.3844T>G

cDNA Name c.3844T>G 
Protein Name p.Trp1282Gly 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name W1282G 
Other Details The mutation W1282G was detected by DGGE and direct sequencing in a patient from Brazil (Caucasian origin), she carries [delta]F508 on the other chromosome and he presents PI and mild lung disease. 
Contributors Faucz F, Raskin S. Casals T, Gimenez J, Ramos MD, Nunes V, Estivill X.   1996-08-08
Institute Lab. Genetika, Curitiba, Brazil. IRO, Barcelona, Spain. 
Submitted Phenotype Details  
Reference Faucz et al. (NL#69) 

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The Database was last updated at Apr 25, 2011