Mutation Details for c.1202G>A

cDNA Name c.1202G>A 
Protein Name p.Trp401X 
Exon or Intron exon 9 
Legacy Exon or Intron exon 8 
Legacy Name W401X(TAG) 
Other Details This mutation was detected by DGGE and DNA sequencing. (CF patient, genotype F508/W401X) The W401X is different from the W401X reported by Cuppens (change at 1335; TGG->TGA). 
Contributors Férec C, Verlingue C, Quere I, Mercier B   1997-01-21
Institute Laboratoire de Biogénétique, University of Brest Brest, France 
Phenotype Information CFTR2
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