Mutation Details for c.1648G>A

cDNA Name c.1648G>A 
Protein Name p.Gly550Arg 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name G550R 
Other Details The above mutation was detected by DGGE and identified direct sequencing. 
Contributors Férec C, Verlingue C, Quere I, Raguenez O, Audrézet M-P, Mercier B   1995-06-08
Institute Centre de Transfusion Sanguine et de Biogénétique, Brest, France 
Submitted Phenotype Details The mutation was identified in a patient with CBAVD, carrying deltaF508 on the other allele. (pers. corr. Ferec) 
Reference Férec et al. (NL#66) 

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The Database was last updated at Apr 25, 2011