Mutation Details for c.3469-331_3469-295del37;3469-189_3717+3822del4260pb

cDNA Name c.3469-331_3469-295del37;3469-189_3717+3822del4260pb 
Exon or Intron intron 21 - exon 22 
Other Details This deletion is different from the deletion of exon 19 previously described by Girodon et al. (1999 ). Breakpoints were characterized by relative quantification of introns 18 and 19 on Light Cycler and direct sequencing of junction fragments. 
Contributors and Institutes
Guittard C - Laboratoire de Génétique Moléculaire, IURC 641, Av. du Doyen Gaston Giraud 34093 Montpellier Cedex 5, France
Taulan M - Laboratoire de Génétique Moléculaire, IURC 641, Av. du Doyen Gaston Giraud 34093 Montpellier Cedex 5, France
Claustres M - Laboratoire de Génétique Moléculaire, IURC 641, Av. du Doyen Gaston Giraud 34093 Montpellier Cedex 5, France
des Georges M - Laboratoire de Génétique Moléculaire, IURC 641, Av. du Doyen Gaston Giraud 34093 Montpellier Cedex 5, France
  
Submitted Phenotype Details This large deletion was identified by semi-quantitative fluorescent PCR in a 6 years old girl who carries F508del in trans. She presents a classical form of CF. 
Reference  

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