Mutation Details for c.1739_1740insT

cDNA Name c.1739_1740insT 
Protein Name p.Leu581PhefsX8 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name 1874insT 
Other Details Mutation Y577F and 1874insT were found together in another CF patient from Austria; this boy is also heterozygous for [delta]F508. 
Contributors Dörk T, Skawran B, Antonin W, Ebhard M, Stegh A, Ellemunter H, Schmidtke J, Stuhrmann M    1995-12-07
Institute Medizinische Hochschule Hannover, Germany 
Submitted Phenotype Details One male patient (15 y) diagnosed with CF at 6 month. He isPI, has severe lung disease (FEV1 27%) and sweat chloride 116 mmol/l. He carries DelF508 on the other allele. (pers.corr.Doerk) 
Reference Dörk et al (NL#67) 

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The Database was last updated at Apr 25, 2011