Mutation Details for c.2900T>C

cDNA Name c.2900T>C 
Protein Name p.Leu967Ser 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name L967S 
Other Details This mutation which was previously reported as a polymorphism (Claustres et al. 1993) is now found in a man with oligospermia.(Original note Zielenski et al. 1997) NL#70 
Contributors Zielenski J, Tzountzouris J, Tsui L-C   1997-08-12
Institute The Hospital for Sick Children Toronto, Canada 
Submitted Phenotype Details The mutation was found in a patient with oligospermia and idiopathic pancreatitis. (pers. corr. Zielenski) 
Reference Zielenski et al. (NL#70) 

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The Database was last updated at Apr 25, 2011