Mutation Details for c.3371_3373delAAG

cDNA Name c.3371_3373delAAG 
Protein Name p.Glu1124del 
Exon or Intron exon 21 
Legacy Exon or Intron exon 18 
Legacy Name E1123del 
Other Details The mutation was detected in the homozygous state in a male from a consanguineous pedigree. The phenotype of this patient is congenital absence of the vas deferens (CBAVD).  
Contributors Ellis L   1998-07-07
Institute St. James's University Hospital Leeds, UK 
Submitted Phenotype Details  
Reference Ellis (NL#70) 

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The Database was last updated at Apr 25, 2011