Mutation Details for c.1679+18G>A

cDNA Name c.1679+18G>A 
Exon or Intron intron 12 
Legacy Exon or Intron intron 11 
Legacy Name 1811+18G->A 
Other Details The above mutation was detected once among 60 unrelated Belgian CF chromosomes. This mutation creates a new potential splice acceptor site, but it has not been proven at the mRNA level at the moment. 
Contributors Teng H, Cuppens H, Cassiman J   1994-12-20
Institute University of Leuven, Belgium 
Submitted Phenotype Details The mutation was identified in a patient with atypical CF. No second mutation was found, except for 125G->C. (pers. corr. De Boeck) 
Reference Teng et al. (NL#65) 

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