Mutation Details for c.3705T>G

cDNA Name c.3705T>G 
Protein Name p.Ser1235Arg 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name S1235R 
Other Details The S1235R mutation (T->G at nucleotide position 3837) in exon 19 was found in 2 out of 34 unrelated Belgian CF chromosomes (7 [delta]F508 and 27 non-[delta] CF chromosomes. 
Contributors Cassiman JJ, Cuppens H, Marynen P   1992-03-04
Institute Center for Human Genetics Leuven, Belgium 
Phenotype Information CFTR2
Reference Cuppens et al. 1993 

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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