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
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Laiko Hospital
Unit of prenatal diagnosis
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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.
Reference
To check if there are any papers published about this mutation/variant on PubMed, please click here.
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The Database was last updated at Apr 25, 2011
