Mutation Details for c.3186A>G

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.3186A>G 
Protein Name p.Leu1062Leu 
Exon or Intron  
Other Details  
Contributors and Institutes
Angius A.,Stasi M., Cardellini M.C., Becchetti T., Furbetta M. - Institute of Pediatria, -Lab. di Genetica Molecolare- Università degli Sudi di Perugia
Submitted Phenotype Details L1062L was observed by direct sequencing after detection of an abnormal DGGE pattern in exon 17b in a italian male with severe oligospermia studied for couple's infertility.He had c.274-6T>C in trans.The same no change mutation was identified in a female patient also screened in a program for infertility. 

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The Database was last updated at Apr 25, 2011