Mutation Details for c.3304A>T

cDNA Name c.3304A>T 
Protein Name p.Arg1102X 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name R1102X 
Other Details This mutation was identified on one French CF chromosome. 
Contributors Claustres M, des Georges M, Altieri JP   2004-09-23
Institute Laboratoire de Genetique Moleculaire, IURC 641, Av. du Doyen Gaston Giraud 34093 Montpellier Cedex 5, France 
Submitted Phenotype Details This stop mutation was found in a baby referred for neonatal screening for cystic fibrosis (IRT > 130 ng/ml - IRT normal value < 65 ng/ml) and carrying p.F508del on the other allele. Her sweat test was 91 mmol/l. 

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The Database was last updated at Apr 25, 2011