Mutation Details for c.3188_3189insCTATG

cDNA Name c.3188_3189insCTATG 
Protein Name p.Trp1063CysfsX22 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name 3320ins5 
Other Details It is a 5 nucleotide insertion CTATG after nucleotide position 3320. That insertion creates a stop codon (TGA) 38 nucleotides after the 3320 position. The child is 10 years old, PS with meconium ileus at birth. He carries the [delta]F508 on the other chromosome. He is considered as severe form of the disease. 
Contributors Mercier B, Audrezet MP, Quere I, Guillermit H, Verlingue C, Ferec C   1991-09-16
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The French CF patient (male, 20y) was diagnosed in infancy, had meconium ileus at birth and is PI. He carries deltaF508 on the other allele.(pers.corr.Ferec) 
Reference FĂ©rec et al. 1992 

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The Database was last updated at Apr 25, 2011