Mutation Details for c.228T>G

cDNA Name c.228T>G 
Protein Name p.Cys76Trp 
Exon or Intron exon 3 
Other Details  
Contributors and Institutes
Altieri JP - Laboratoire de Génétique Moléculaire, IURC 641, Av. du Doyen Gaston Giraud 34093 Montpellier Cedex 5, France
Guittard C - Laboratoire de Génétique Moléculaire, IURC 641, Av. du Doyen Gaston Giraud 34093 Montpellier Cedex 5, France
Templin 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 Complete scanning allowed to identify this missense mutation and the variant 3849+40A>G in a CBAVD patient. Familial segragation was not available. The sweat test values were borderline and the patient had bronchiectasis.  
Reference  

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The Database was last updated at Apr 25, 2011