Mutation Details for c.1900C>T

cDNA Name c.1900C>T 
Protein Name p.Gln634X 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name Q634X 
Other Details The mutation was found in the CFTR gene by direct sequencing. Mutation Q634X in exon 13 (T->A at 2032) was found once in a French CF chromosome associated with the A haplotype. The patient carries [delta]F508 on her other chromosome. 
Contributors Michel-Calemard L, Bey Omar F, Morel Y   1996-07-10
Institute Service de Biochimie Endocrinienne et Mol├ęculaire, Hopital Debrousse 
Submitted Phenotype Details  
Reference Michel-Calemard et al. (NL#69) 

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The Database was last updated at Apr 25, 2011