Mutation Details for c.2799A>T

cDNA Name c.2799A>T 
Protein Name p.Arg933Ser 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name R933S 
Other Details R933S was found in a German patient with CBAVD who is also heterozygous for [delta]F508. 
Contributors Dörk T, Schmidtke J, Stuhrmann M   1996-09-23
Institute Institut fur Humangenetik, Medizinische Hochschule Hannover, Hannover, Germany. 
Submitted Phenotype Details The patient (male) is PS, was diagnosed with CBAVD and carries DelF508 on the other allele. (pers.corr. Doerk) 
Reference Dörk et al. (NL#69) 

To check if there are any papers published about this mutation/variant on PubMed, please click here.

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011