Mutation Details for c.1584+2T>C

cDNA Name c.1584+2T>C 
Exon or Intron intron 11 
Legacy Exon or Intron intron 10 
Legacy Name 1716+2T->C 
Other Details The above mutation was found by DGGE in a CF family from Southern France. 
Contributors Claustres M, Guittard C, Carles S   1996-02-02
Institute Institut de Biologie Montpellier, France 
Submitted Phenotype Details The CF female patient died at 16 years of age. She was PI, with severe lung disease and carried deltaF508 on the other allele. (pers.corr. Claustres) 
Reference Claustres et al. (NL#68) 

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