Mutation Details for c.3200C>G

cDNA Name c.3200C>G 
Protein Name p.Ala1067Gly 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name A1067G 
Other Details This change has been detected by DGGE analysis and direct sequencing in one Spanish allele 
Contributors J. Gimenez, MD. Ramos, L. Bassas, T. Casals   2004-12-29
Institute CGMM-IRO. Barcelona. Spain IUNA, F. Puigvert. Barcelona. Spain  
Submitted Phenotype Details Male patient with congenital bilateral absence of vas deferens. No other mutation was found (pers. corr. T. Casals) 

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The Database was last updated at Apr 25, 2011