Mutation Details for c.618G>T

cDNA Name c.618G>T 
Protein Name p.Leu206Phe 
Exon or Intron exon 6 
Legacy Exon or Intron exon 6a 
Legacy Name L206F 
Other Details We would like to report a novel mutation we have identified by DGGE and direct sequencing. 
Contributors Férec C, Verlingue C, Quere I, Mercier B   1997-02-14
Institute University of Brest Brest, France 
Submitted Phenotype Details The mutation was found in a Canadian CF patient (male, 44y) carrying deltaF508 on the other allele. (pers. corr. Ferec) 
Reference Férec et al. (NL#69) 

To check if there are any papers published about this mutation/variant on PubMed, please click here.




Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011