Mutation Details for c.338A>T

cDNA Name c.338A>T 
Protein Name p.Asn113Ile 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name N113I 
Other Details The mutation was detected by DHPLC analysis and characterized by direct sequencing. 
Contributors CABET/BEY - OMAR F., PLOYE F., MOREL Y.,   2007-02-05
Institute Lab. De Biologie Moleculaire et Endocrinienne Lyon France 
Submitted Phenotype Details N113I was found in a male patient with congenital absence of vas deferens. The F508del in on his other allele. 

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The Database was last updated at Apr 25, 2011