Mutation Details for c.3199G>C

cDNA Name c.3199G>C 
Protein Name p.Ala1067Pro 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name A1067P 
Other Details The mutation was detected by DHPLC analysis and characterized by direct seqencing 
Contributors CABET/BEY - OMAR F., PLOYE F., MOREL Y.,   2007-02-05
Institute Lab. De Biologie Moleculaire et de Biochimie endocrinienne Lyon France 
Submitted Phenotype Details A1067P was found in a male patient with congenital absence of vas deferens. The other mutation is F508del 

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The Database was last updated at Apr 25, 2011