Mutation Details for c.350G>A

cDNA Name c.350G>A 
Protein Name p.Arg117His 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name R117H 
Other Details  
Contributors    1990-01-01
Phenotype Information CFTR2
Reference Dean et al. 1990 

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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