Mutation Details for c.54-4235_164+377dup4723

cDNA Name c.54-4235_164+377dup4723 
Exon or Intron intron 1 
Other Details This duplication was identified in a CF patient’s mother originating from Greece by semi-quantitative fluorescent multiplex PCR. Breakpoints were characterized by relative quantification 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
Thèze C - 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 duplication was identified in a CF patient’s mother originating from Greece. The patient is 20 yo and was diagnosed by neonatal screening. She carries the F508del on the other chromosome. Phenotypic data: positive sweat test (90 mEq/L), PS and mild pulmonary symptoms.  
Reference  

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The Database was last updated at Apr 25, 2011