Mutation Details for c.1001G>A

cDNA Name c.1001G>A 
Protein Name p.Arg334Gln 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name R334Q 
Other Details The above mutation was found by DGGE and direct sequencing in Caucasian patients. 
Contributors Férec C, Quere I, Verlingue C, Raguenes O, Audrézet M-P, Mercier B   1994-12-19
Institute Centre de Transfusion sanguine et de Biogénétique, Brest, France 
Submitted Phenotype Details The mutation was identified in an individual with CF suspicion (pers.corr. Ferec) 
Reference Férec et al. (NL#65) 

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