Mutation Details for c.2908+1085_3367+260del7201

cDNA Name c.2908+1085_3367+260del7201 
Exon or Intron intron 17 - exon 20 
Legacy Exon or Intron intron 15 - exon 17b 
Legacy Name CFTR-dele 16-17a-17b 
Other Details Name in accordance with the standard nomenclature guidelines (HGVs). c.2908+1085_c.3367+260del7201 This deletion is different from the deletion of exons 16-17a-17b previously described by Chevalier -Porst et al.. 
Contributors Claustres M, Altieri JP, Templin C, Guittard C, des Georges M.   2007-04-12
Institute Laboratoire de Genetique Moleculaire. IURC. CHU del Montpellier. France 
Submitted Phenotype Details This large deletion was identified by semi-quantitative fluorescent PCR in a baby who was detected by newborn screening (positive IRT, no frequent mutation, positive sweat test). He carries another large rearrangement in trans. This mutation was inherited from his South Korean mother. 

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The Database was last updated at Apr 25, 2011