Mutation Details for c.1040G>T

cDNA Name c.1040G>T 
Protein Name p.Arg347Leu 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name R347L 
Other Details A nucleotide change, G->T at position 1172, was detected leading to R347L. The other chromosome carries a [delta]F508. This mutation was found on one chromosome among 150 CF chromosomes screened. 
Contributors Ferec C, Quere I, Verlingue C, Audrezet MP, Guillermit H, Mercier B   1992-05-07
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutatipon was identified in a French CF patient (female, 12y) diagnosed at birth. Sweat chloride were initially negative, then became positive. Shecarries deltaF508 on the other allele. (pers.corr.Ferec) 
Reference Audr├ęzet et al. 1993a 

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