Mutation Details for c.3808G>A

cDNA Name c.3808G>A 
Protein Name p.Asp1270Asn 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name D1270N 
Other Details The patient that carries the D1270N is an otherwise healthy male wth congenital absence of the vas deferens, an autosomal recessive disorder causing male aterility. The patient also carries an [delta]F508 mutation on the other chromosome. We did not find D1270N in iver 100 CF patients or in 91 fertile CF-carrier males. 
Contributors Dean M, Gerrard B, White MB, Stewart C, Amos J   1991-08-10
Institute National Institutes of Health Frederick, MD, USA 
Phenotype Information CFTR2
Reference Dean et al. 1991 

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The Database was last updated at Apr 25, 2011