Mutation Details for c.1012A>G

cDNA Name c.1012A>G 
Protein Name p.Thr338Ala 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name T338A 
Other Details This mutation was identified in one Iranian CBAVD patient. 
Contributors Ramin Radpour, Hamid Gourabi, Mohamad Ali Sadighi Gilani, Mina Rezaee, Ahmad Vosough Dizaj, Sepideh Mollamohamadi    2006-03-16
Institute Department of Reproductive Genetics, Reproductive Biomedicine Research Center of Royan Institute, Tehran, Iran 
Submitted Phenotype Details A male with congenital bilateral absence of the vas deferen (CBAVD) and azoospermia, without pulmonary or gastrointestinal manifestations of cystic fibrosis. 
Reference  

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The Database was last updated at Apr 25, 2011