Mutation Details for c.3014T>G

cDNA Name c.3014T>G 
Protein Name p.Ile1005Arg 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name I1005R 
Other Details This was identified in three independent German patients with mild pancreatic dysfunction but severe pulmonary disease. The mutation is associated with haplotype A. 
Contributors Dork T, Tummler B   1992-08-11
Institute Medizinische Hochschule Hannover Hannova, Germany 
Submitted Phenotype Details One patient (male, 5) was diagnosed with CF at birth. He is PI, has severe pulmonary disease (FEV1 26%).He carries DelF508 on the other allele. (pers. corr. Doerk) 
Reference Dörk et al. 1994b 

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The Database was last updated at Apr 25, 2011