Mutation Details for c.2998_3012del

cDNA Name c.2998_3012del 
Protein Name p.Ile1000_Ile1005del 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name 3130del15 
Other Details  
Contributors Doerk T.   2002-01-01
Institute Medizinische Hochschule Hannover Hannova, Germany 
Submitted Phenotype Details The male CF patient (8 years old) was diagnosed at 6 months of age. He is PI and had sweat chloride 110 mmol/l. He carries deltaF508 on the other allele. (pers. corr. Doerk) 

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The Database was last updated at Apr 25, 2011