Mutation Details for c.489+23c>G

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.489+23c>G 
Exon or Intron  
Other Details The CFTR change was detected by direct Sequencing once on 94 DB chromosomes. It was not detected in 100 CF and 94 normal chromosomes. 
Contributors and Institutes
Bergougnoux A., Taulan-Cadars M., Claustres M., Raynal C. - Laboratoire de Génétique Moléculaire, IURC
641 avenue du Doyen Gaston Giraud - 34093 Montpellier Cedex 5
Submitted Phenotype Details This probable polymorphisme was identified in a patient with diffuse bronchiectasis (DB). No variant was detected in the second allele. 

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