Mutation Details for c.1679+34G>A

cDNA Name c.1679+34G>A 
Exon or Intron intron 12 
Legacy Exon or Intron intron 11 
Legacy Name 1811+34 G>A  
Other Details This mutation in intron 11 was detected by SSCP and was found in an iranian parent who have an affected child that died. 
Contributors Mirzajani F, Mojarrad M, Yazdanpanahi N, Mirfakhraiee M, Derakhshandeh-Peykar P    2004-03-15
Institute 1) national center for genetic engineering and biotechnology ,Tehran, iran 2) Tehran Medical Mniversity, School of Public Health, Department of Human Genetics,Tehran, iran  
Submitted Phenotype Details The individual was suspected to be a carrier. becuase he has an affected child. child has positive sweat test, meconium ileus and respirarory infection and child died becuase of respiratory infection. 

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The Database was last updated at Apr 25, 2011