Mutation Details for c.54-5940_273+10250del21kb

cDNA Name c.54-5940_273+10250del21kb 
Protein Name p.Ser18ArgfsX16 
Exon or Intron intron 1 - exon 3 
Legacy Exon or Intron intron 1 - exon 3 
Legacy Name CFTRdele2,3 
Other Details The CFTRdele2,3 mutation was found in a homozygous Turkish CF patient. Please see CFTRdele2 and CFTR25kbdel. 
Contributors Mekus F, Dörk T, Tummler B   1996-03-25
Institute Medizinische Hochschule, Hannover, Germany 
Phenotype Information CFTR2
Reference Mekus et al. (NL#68) 

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The Database was last updated at Apr 25, 2011