Mutation Details for c.3920A>G

cDNA Name c.3920A>G 
Protein Name p.Tyr1307Cys 
Exon or Intron exon 24 
Legacy Exon or Intron exon 21 
Legacy Name Y1307C 
Other Details This change has been detected by DGGE analysis and direct sequencing. 
Contributors T. Casals, MD. Ramos, J. Gimenez, L. Bassas   2003-04-09
Institute CGMM-IRO Barcelona, Spain IUNA, F. Puigvert Barcelona, Spain 
Submitted Phenotype Details The patient presented CUAVD. No other mutation was identified. 

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The Database was last updated at Apr 25, 2011