Mutation Details for c.2125C>T

cDNA Name c.2125C>T 
Protein Name p.Arg709X 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name R709X 
Other Details This mutation was identified by direct sequencing. The nucleotide change is C->T at position 2257, which leads to R709X in exon 13. This mutation has been detected in a 20 year old female who carries also [delta]F508 on the other chromosome. The mutation was detected on 1 Italian CF chromosome out of 225 screened. 
Contributors Nicolis E, Bonizzato A, Cabrini G   1993-10-11
Institute Cystic Fibrosis Center Verona, Italy 
Phenotype Information CFTR2
Reference Nicolis et al. (NL#59) 

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The Database was last updated at Apr 25, 2011