Mutation Details for c.236G>A

cDNA Name c.236G>A 
Protein Name p.Trp79X 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name W79X 
Other Details This mutation was identified by DGGE and direct sequencing. The nucleotide change G->A, at position 368, leads to W79X in exon 3. 
Contributors Ferec C, Quere I, Verlingue C, Audrezet MP, Raguenes O, Guillermit H, Mercier B   1994-08-24
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The French patient (male, 10y) carries G551D on the other allele. (pers.corr.Ferec) 
Reference FĂ©rec et al. (NL#58) 

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The Database was last updated at Apr 25, 2011