Mutation Details for c.2918T>A

cDNA Name c.2918T>A 
Protein Name p.Leu973His 
Exon or Intron exon 18 
Legacy Exon or Intron exon 16 
Legacy Name L973H 
Other Details This change has been detected by SSCP/HD analysis and direct sequencing in one Spanish chromosome  
Contributors J. Gimenez, MD. Ramos, L. T. Casals   2004-12-29
Institute CGMM-IRO. Barcelona. Spain 
Submitted Phenotype Details Male patient (36 y) with congenital bilateral absence of vas deferens. He presents the genotype [F508del] + [L973H] (pers. corr. T. Casals) 

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The Database was last updated at Apr 25, 2011