Mutation Details for c.3294delG

cDNA Name c.3294delG 
Protein Name p.Trp1098CysfsX4 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name 3425delG 
Other Details 3425delG was identified in a German CF family from lower Saxonia; the affected girl carried 3425delG on her paternal and [delta]F508 on the maternal 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 The CF patient (female) carries DeltaF508 on the other allele. (pers. corr. Doerk) 
Reference Dörk et al (NL#67) 

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The Database was last updated at Apr 25, 2011