Mutation Details for c.1359_1361delGTT

cDNA Name c.1359_1361delGTT 
Protein Name p.Leu454del 
Exon or Intron exon 10 
Legacy Exon or Intron exon 9 
Legacy Name [delta]L453 
Other Details [delta]L453 (or 454) was identified in an Austrian CF family from Tyrol. The male patient had severe CF and carrier [delta]L453 on his maternal and [delta]F508 on the paternal allele. 
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 patient(male, died at 18y) diagnosed at 25months, sweat chloride 76mmol/l, PI, FEV1 21% with Pseudomonas Aeruginosa and Cepacia colonization, liver cirrhosis. DelF508 was on the other allele. (Stuhrmann et all 1997 and pers corr. Doerk) 
Reference Dörk et al (NL#67) 

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The Database was last updated at Apr 25, 2011