Mutation Details for c.3929G>A

cDNA Name c.3929G>A 
Protein Name p.Trp1310X 
Exon or Intron exon 24 
Legacy Exon or Intron exon 21 
Legacy Name W1310X 
Other Details  
Contributors Cassiman JJ, Cuppens H, Marynen   1992-03-03
Institute Center for Human Genetics Leuven, Belgium 
Submitted Phenotype Details The 16-year old female patient is from Turkish descent. She was diagnosed at 1 month of age.She is PI, has mild pulmonary symptoms (FEV1 86%), sweat chloride 122.62 mmol/l and carries 2183AA>G on the other allele. (pers. corr. De Boeck) 
Reference Cuppens et al. 1993 

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The Database was last updated at Apr 25, 2011