Mutation Details for c.223C>T

cDNA Name c.223C>T 
Protein Name p.Arg75X 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name R75X 
Other Details This mutation was identified in a German PI patient with N1303K on the other allele. The patient carries haplotype C and the 125G->C polymorphism. 
Contributors Dork T, Tummler B   1992-08-11
Institute Medizinische Hochschule Hannover Hannova, Germany 
Phenotype Information CFTR2
Reference Dörk et al. 1994b 

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Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

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The Database was last updated at Apr 25, 2011