Mutation Details for c.1001G>T

cDNA Name c.1001G>T 
Protein Name p.Arg334Leu 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name R334L 
Other Details Missense mutation E334L was detected in a German CBAVD patient who is compound heterozygous for the R334L and I336K mutations. 
Contributors Dörk T, El-Harith E-H, Ellemunter H, Schmidtke J, Stuhrmann M   1996-08-13
Institute Institut fur Humangenetik, Medezinische Hochschule Hannover, Hannover, Germany. 
Submitted Phenotype Details One patient (male, 33y) diagnosed at 33y with CBAVD, is PS, has recurrent pulmonary infections and nasal poliposis. He carries I336K 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