Mutation Details for c.49_50dupTT

cDNA Name c.49_50dupTT 
Protein Name p.Trp19AlafsX7 
Exon or Intron exon 1 
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 This mutation was identified by sequencing in a newborn presenting positive IRT at birth (>110 ng/ml - IRT normal value < 65 ng/ml) and carrying p.Gly551Asp on the other allele. The sweat test was positive (98/100 mmol/l). The family was originating from Morocco.  
Reference  

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The Database was last updated at Apr 25, 2011