Mutation Details for c.364T>C

cDNA Name c.364T>C 
Protein Name p.Tyr122His 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name Y122H 
Other Details This mutation was identified on CFTR gene 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.  

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The Database was last updated at Apr 25, 2011