Mutation Details for c.349C>T

cDNA Name c.349C>T 
Protein Name p.Arg117Cys 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name R117C 
Other Details The haplotype is 2-1-1-2 (XV2c-KM19-D9-J44) with seven GATT repeats. The mutation creates a new Bsml site. 
Contributors Dork T, Kalin N, Tummler B   1992-02-29
Institute Medizinische Hochschule Hannover 
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