Mutation Details for c.1972_1973insA

cDNA Name c.1972_1973insA 
Protein Name p.Arg658LysfsX7 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2104insA+2109-2118del10 
Other Details This complex mutation was identified at the homozygous or hemizygous state (the parents were not available) in a young patient from Brazil, and having a classical severe form of CF. The mutation leads to a structure modification in a region of the R domain which is conserved among species: RNSIL>KK (R958, N959). 
Contributors Girodon E, Cazeneuve C, Sternberg D, Costes B, Goossens M   1999-11-23
Institute Service de Biochimie-Genetique Hopital Henri-Mondor, France 
Submitted Phenotype Details 2104insA+2109-2118del10 was found in a homozygous 5y M, diagnosed at 21m, PI, no pulmonary symptoms, positive sweat chloride.(pers.corr. Girodon) 
Reference Girodon et al. 1999 

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The Database was last updated at Apr 25, 2011