Mutation Details for c.2079T>G

cDNA Name c.2079T>G 
Protein Name p.Phe693Leu 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name F693L(TTG) 
Other Details This mutation was seen on 1 U.S. Hispanic chromosome. ASO analysis revealed that this alteration was not present on 100 non-CF Caucasian chromosomes. This mutation was found in a 17-year old patient with a diagnosis of severe asthma. Sweat testing was high/borderline with values of 86, 58 and 53. Tests were negative for staph and pseudomonas. The mutation was found after sequencing. The 5T splice variant was also found. We are waiting for parental DNA to determine if the 5T is in cis or trans with this mutation. 
Contributors Meyer M, Groman J, Cutting G R   2001-04-25
Institute Institute of Genetic Medicine Cystic Fibrosis Foundation Genotyping Center, Baltimore, MD, USA 
Submitted Phenotype Details  
Reference Meyer et al. 2001 

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