Mutation Details for c.54-13C>G

cDNA Name c.54-13C>G 
Exon or Intron intron 1 
Legacy Exon or Intron intron 1 
Legacy Name 186-13C->G 
Other Details The CF child is 13 years old, PS, with nasal polyposis as the main symptom. He carries the [delta]F508 on the other allele. We have not observed this nucleotide change in 200 normal chromosomes so far tested. 
Contributors Ferec C, Quere I, Audrezt MP, Verlingue C, Guillermit Hm Mercier B   1992-11-06
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was identified in a female French CF patient, who is PS, has mild lung disease and carries DeltaF508 on the other allele. (pers. corr. Ferec)  
Reference Férec et al. (NL#50) 

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