Mutation Details for c.1393-47T>G

cDNA Name c.1393-47T>G 
Exon or Intron intron 10 
Legacy Exon or Intron intron 9 
Legacy Name 1525-47T->G 
Other Details This nucleotide change was identified in Polish infant during CF newborn screening program. No other mutation was found after sequencing of exons: 7, 10, 11, 13, 21. Mutations: 3849+10kbC>T, dele2,3(21kb), and R117H were also excluded. 
Contributors Norek A., Sobczynska-Tomaszewska A., Wertheim K., Czerska K, OĊ‚tarzewski M., Sands D., Bal J.   2008-05-01
Institute Institute of Mother and Child, Department of Medical Genetics, Warsaw, Poland 
Submitted Phenotype Details 1.IRT = 1485 [ug/l] 2.IRT = 39.16 [ug/l] No CF symptoms 

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The Database was last updated at Apr 25, 2011