Mutation Details for c.165-50A>G

cDNA Name c.165-50A>G 
Exon or Intron intron 2 
Legacy Exon or Intron intron 2 
Legacy Name 297-50A/G 
Other Details This mutation was detected by DGGE in a russian male.  
Contributors Chomel JC, Baudis M, Kitzis A   1998-12-03
Institute CHU de Poitiers, France 
Submitted Phenotype Details The mutation was found in a 39 years old CBAVD patient diagnosed at 35 years of age, with no pulmonary symptoms. No other clinical info is available.(pers. corr. Kitzis) 
Reference Chomel et al. 1998 

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The Database was last updated at Apr 25, 2011