Mutation Details for c.2846A>G

cDNA Name c.2846A>G 
Protein Name p.His949Arg 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name H949R 
Other Details The above mutation was found by DGGE and direct sequencing in Caucasian patients. 
Contributors Férec C, Quere I, Verlingue C, Raguenes O, Audrézet M-P, Mercier B   1995-02-14
Institute Centre de Transfusion sanguine et de Biogénétique, Brest, France 
Submitted Phenotype Details The mutation was found in a male with CBAVD carrying G542X on the other allele.(pers.corr. Ferec) 
Reference Férec et al. (NL#65) 

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The Database was last updated at Apr 25, 2011