Mutation Details for c.1766+30G>A

cDNA Name c.1766+30G>A 
Exon or Intron intron 13 
Legacy Exon or Intron intron 12 
Legacy Name 1898+30G/A 
Other Details The 1898+30G/A polymorphism was found in a Portuguese patient with a non-confirmed CF diagnosis. The above polymorphism was discovered by DGGE and identified by direct sequencing. This nucleotide change has been found once in 353 non-deltaF508 CF chromosomes tested from the Portuguese population. This nucleotide change was found neither in 291 normal chromosomes nor in 177 with an identified CF mutation. The patient was a new-born with respiratory insufficiency and infection, and growth retardation. No CF mutation was found and the CF diagnosis was not confirmed. 
Contributors Pacheco P, Loureiro P, Lavinha J   1999-06-02
Institute Instituto Nacional de Sa├║de Lisboa, Portugal 
Submitted Phenotype Details  
Reference Pacheco et al. 1999 

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The Database was last updated at Apr 25, 2011