Mutation Details for c.3910T>A

cDNA Name c.3910T>A 
Protein Name p.Leu1304Met 
Exon or Intron exon 24 
Other Details The mutation was identified in an Iranian infertile man. 
Contributors and Institutes
Mirfakhraie R - Islamic Azad University, Science & Research Branch, Tehran, Iran. National Institute for Genetic Engineering & Biotechnology, Tehran, Iran
Mirzajani F - National Institute for Genetic Engineering & Biotechnology, Tehran, Iran
Kalantar SM - Research & Clinical Center for Infertility, Yazd, Iran
Salsabili N - Mirza Kouchak Khan Hospital, Tehran University of Medical Sciences, Tehran, Iran
Montazeri M - National Institute for Genetic Engineering & Biotechnology, Tehran, Iran
  
Submitted Phenotype Details The patient (male) was diagnosed at 31 years old with non-obstructive azoospermia. He carries A120T mutation on the other allele. Sperm retrieval failed in the patient using testicular sperm extraction (TESE).  
Reference  

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The Database was last updated at Apr 25, 2011