Mutation Details for c.1159_1160delTT

cDNA Name c.1159_1160delTT 
Protein Name p.Leu387AsnfsX23 
Exon or Intron exon 9 
Legacy Exon or Intron exon 8 
Legacy Name 1291delTT 
Other Details  
Contributors Aulehla-Scholz C   2002-01-01
Institute Institut für Klinische Genetik Stuttgart 
Submitted Phenotype Details The patient (female) was diagnosed at 37 years with mild CF. She is PS, haspositive sweat chloride and moderate lung disease. She carries DeltaF508 on the other allele.(pers. corr. Aulehla-Scholz) 

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The Database was last updated at Apr 25, 2011