Mutation Details for c.3220T>C

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

cDNA Name c.3220T>C 
Protein Name p.Phe1074Leu 
Exon or Intron  
Other Details  
Contributors and Institutes
Angius A.,Stasi M.,CardelliniM.C., Becchetti T., Furbetta M. - Institute of Pediatria- Lab.di Genetica Molecolare- Università degli Studi di Perugia
Submitted Phenotype Details F1074L was observed by direct sequencing after detection of an abnormal DGGE pattern in exon 17b in two male italian patients with oligospermia studied in a screening program for couple's infertility. 

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The Database was last updated at Apr 25, 2011