Mutation Details for c.-593A>G

cDNA Name c.-593A>G 
Exon or Intron promoter 
Legacy Exon or Intron promoter and 5' UTR 
Legacy Name -461A->G  
Other Details This variation has been identified in one healthy child. 
Contributors Nadja Bogdanova, Bernd Dworniczak, Jurgen Horst    2004-06-16
Institute Institute of Human Genetics, University of Muenster, Germany 
Submitted Phenotype Details This variant has been detected using sequencing analysis in a spouse of a heterozygous carrier of F508del. In an attempt to clarify a (possible) pathogenic effect of the mutation, we analyzed three healthy offsprings of the couple. One of them (a 12 years old girl is compound heterozygous for F508del and c. -461A>G.. 

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The Database was last updated at Apr 25, 2011