Mutation Details for c.3775A>T

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.3775A>T 
Protein Name p.Arg1259X 
Exon or Intron  
Other Details Mutation is found in one female Russian CF patient, the second allele is F508del 
Contributors and Institutes
Petrova N.V., Dr.Biol., Kondratyeva E.I., Prof., Dr.Med. Research Centre for Mrdical Genetics, Moscow, Russian Federation -
  
Submitted Phenotype Details  
Reference  

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The Database was last updated at Apr 25, 2011