Mutation Details for c.3774_3775insG

cDNA Name c.3774_3775insG 
Protein Name p.Arg1259GlufsX6 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name 3906insG 
Other Details A novel CFTR mutation was detected by DGGE screening and subsequent direct sequencing : this mutation is a G insertion after position 3906 in exon 20 (3906 ins G). The mutation was detected on 1 french CF chromosome out of 109 non-[delta]F chromosomes screened. The 5 year old CF girl carries one other rare mutation on the other allele. She is suffering from a severe CF (PI) 
Contributors Feldmann D, Magnier C, Chauve C, Aymard P, Hermelin B, Fauroux B   1993-11-26
Institute Hopitaux de Paris Paris, France 
Submitted Phenotype Details  
Reference Feldman et al. (NL#61) 

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The Database was last updated at Apr 25, 2011