Mutation Details for c.3773_3774insT

cDNA Name c.3773_3774insT 
Protein Name p.Leu1258PhefsX7 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name 3905insT 
Other Details This mutation was found during direct sequencing and comprises an insertion of a T residue among the string of 6 Ts spanning nucleotides 3900 to 3905. The patient is of Swiss origin, and has the [delta]F508 mutation on his other chromosome, is 26 years old, and had light CF until 18 then rapid progression with a severe asthma component. 
Contributors Malik N, Hofmann S, Bosch-Al Jadooa N, Rutishauser M, Buhler E   1991-07-30
Institute Basler Kinderspital Basel Basel, Switzerland 
Phenotype Information CFTR2
Reference Malik et al. (NL#37) 

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The Database was last updated at Apr 25, 2011