Mutation Details for c.3468+42G>A

cDNA Name c.3468+42G>A 
Exon or Intron intron 21 
Legacy Exon or Intron intron 18 
Legacy Name 3600+42G/A 
Other Details The intron 18 variant was only observed once in an individual suspected to have CF. 
Contributors Dörk T, El-Harith E-H A, Schmidtke J, Stuhrmann M   1996-11-21
Institute Institut fur Humangenetik, Medizinische Hachschule Hannover, Hannover, Germany 
Submitted Phenotype Details  
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