Mutation Details for c.1585-19T>C

cDNA Name c.1585-19T>C 
Exon or Intron intron 11 
Legacy Exon or Intron intron 10 
Legacy Name 1717-19T/C 
Other Details This mutation was identified by DGGE and direct sequencing. This nucleotide change was observed in one French CF chromosome. 
Contributors Ferec C, Quere I, Verlingue C, Audrezet MP, Raguenes O, Guillermit H, Mercier B   1993-06-07
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was identified in a patient with neonatal hypertrypsinemia. (pers.corr. Ferec) 
Reference FĂ©rec et al. (NL#59) 

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