Mutation Details for c.2812G>C

cDNA Name c.2812G>C 
Protein Name p.Val938Leu 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name V938L 
Other Details This change has been detected by DGGE analysis and direct sequencing in one Spanish chromosome  
Contributors MD. Ramos, J. Gimenez, T. Casals   2004-12-29
Institute CGMM-IRO. Barcelona. Spain 
Submitted Phenotype Details Male patient with azoospermia (unknown etiology). He presents the genotype [D443Y, G576A, R668C] + [V938L] (pers. corr. T. Casals) 

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The Database was last updated at Apr 25, 2011