Mutation Details for c.1478A>G

cDNA Name c.1478A>G 
Protein Name p.Gln493Arg 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name Q493R 
Other Details This mutation was identified by DGGE and direct sequencing which was found in a Bulgarian CF chromosome. 
Contributors Kalaydjieva L, Savov A, Jordanova A, Ferec C, Quere I, Audrezet MP, Mercier B   1993-02-19
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details One patient (male, 10y) was diagnosed with CF at 2 months, no meconium ileus. He is PI, sweat chloride 82-90 mmol/l, and has severe lung disease, with Staph Aureus colonisation. (pers. corr. Savov) 
Reference Savov et al. 1994a 

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