Mutation Details for c.2053_2054insC

cDNA Name c.2053_2054insC 
Protein Name p.Gln685ProfsX4 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2185insC 
Other Details >We would like to report a new mutation in the CF gene: 2185insC. We found >this mutation in a CF patient heterozygote for deltaF508. DeltaF508 is from >paternal origin, 2185insC is from maternal origin. The patient was >CF-diagnosed in infancy but is now 32 years old . The mutation was >detected by sequencing. This mutation was found in a CF patient heterozygote for [delta]F508. [delta]F508 is of paternal origin, 2185insC is maternal. The patient was CF-diagnosed in infancy but is now 32 years old. The mutation was detected by sequencing. 
Contributors Mornet E, Taillandier A, Simon-Bouy B   1999-08-17
Institute Centre d'Etudes de Biologie Prenatale SESEP Universite de Versailles, Versailles, France 
Submitted Phenotype Details  
Reference Mornet et al. 1999 

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The Database was last updated at Apr 25, 2011