Mutation Details for c.2052A>G

cDNA Name c.2052A>G 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2184A/G 
Other Details This variation was identified on one French chromosome. 
Contributors Claustres M, des Georges M, Templin C   2004-09-23
Institute Laboratoire de Genetique Moleculaire, IURC<p> 641, Av. du Doyen Gaston Giraud<p> 34093 Montpellier Cedex 5, France 
Submitted Phenotype Details This variation was found in a baby referred for newborn screening for cystic fibrosis (IRT > 65 ng/ml - IRT normal value < 65 ng/ml). This variation is non specifically amplified by the c.2183AA>G primers in the kit Elucigene CF20. No other mutation was identified using this kit. Her sweat test was negative: 28 mmol/l. 

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The Database was last updated at Apr 25, 2011