Mutation Details for c.4009T>G

cDNA Name c.4009T>G 
Protein Name p.Phe1337Val 
Exon or Intron exon 25 
Legacy Exon or Intron exon 22 
Legacy Name F1337V 
Other Details The mutation was detected by DGGE and identified by direct sequencing in a CBAVD patient with R1070Q on the other allele. The mutation creates a MaeII site. It was not detected in 50 unrelated individuals with no CF history. 
Contributors Scheffer H, Wu Y, Hofstra R, Looman M, de Jong D, Buys C   1997-08-22
Institute State University of Groningen, The Nethelands 
Submitted Phenotype Details  
Reference Scheffer et al. (NL#70) 

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The Database was last updated at Apr 25, 2011