Mutation Details for c.2399C>G

cDNA Name c.2399C>G 
Protein Name p.Ala800Gly 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name A800G 
Other Details This mutation was identified by DGGE and direct sequencing. This patient is an infertile male with CBAVD. 
Contributors Ferec C, Quere I, Verlingue C, Audrezet MP< Raguenes O, Guillermit H, Mercier B   1993-06-29
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was identified in a male patient with CBAVD. (Vankeerberghen et al.,1998 and pers.corr. Ferec) 
Reference Mercier et al. 1995 

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The Database was last updated at Apr 25, 2011