Mutation Details for c.2017G>T

cDNA Name c.2017G>T 
Protein Name p.Gly673X 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name G673X 
Other Details This mutation was detected in a single German cystic fibrosis family. The 24 yrs. old patient is PI and a compund heterozygote for [delta]I507. 
Contributors Dork T, Bosshammer J, Mekus F, Tummler B   1992-12-16
Institute Medizinische Hochschule Hannover Hannova, Germany 
Submitted Phenotype Details The patient (female, 25y) was diagnosed at 2.4 years with CF. She is PI and heterozygous DelI507. (pers. corr. Doerk) 
Reference Dörk et al. 1994b 

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The Database was last updated at Apr 25, 2011