Mutation Details for c.1472G>T

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

cDNA Name c.1472G>T 
Protein Name p.Cys491Phe 
Exon or Intron  
Other Details  
Contributors and Institutes
K Sinopoulou A Balassopoulou E Voskaridou - Laiko Hospital
Unit of prenatal diagnosis - Center for thalassemias
Submitted Phenotype Details This change was found by DGGE analysis followed by direct sequencing in a young woman tested for frequent CF mutations in Greek population in terms of general population screening.  

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The Database was last updated at Apr 25, 2011