Mutation Details for c.3294G>C

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

cDNA Name c.3294G>C 
Protein Name p.Trp1098Cys 
Exon or Intron  
Other Details  
Contributors and Institutes
Templin C, Altieri JP, Guittard C, Claustres M, des Georges M. - Laboratoire de Génétique Moléculaire, IURC
641, Av. du Doyen Gaston Giraud - 34093 Montpellier Cedex 5, France
Submitted Phenotype Details This missense mutation was identified by sequencing in a newborn with positive IRT at birth (>110 ng/ml - IRT normal value < 65 ng/ml), p.Phe508del on the other allele and positive sweat test (84/76 mmol/l). 

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The Database was last updated at Apr 25, 2011