Mutation Details for c.1680-26T>C

cDNA Name c.1680-26T>C 
Exon or Intron intron 12 
Legacy Exon or Intron intron 11 
Legacy Name 1812-26T->C 
Other Details This mutation was detected by DGGE and direct sequencing. It was observed only once among 200 CF chromosomes.  
Contributors Alonso MJ, Velasco E, Telleria J, Fernandez I, Blanco A.   2003-07-13
Institute Laboratorio de PediatrĂ­a- IBGM. Facultad de medicina. Universidad de Valladolid. Spain 
Submitted Phenotype Details This mutation was identified in a 18 years-old Spanish female with disseminated bronchiectasis and negative sweat chloride test. No other mutation was found. 

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The Database was last updated at Apr 25, 2011