Mutation Details for c.1606A>T

cDNA Name c.1606A>T 
Protein Name p.Lys536X 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name K536X 
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. 

To check if there are any papers published about this mutation/variant on PubMed, please click here.

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011