Mutation Details for c.-85C>G

cDNA Name c.-85C>G 
Exon or Intron promoter 
Legacy Exon or Intron promoter and 5' UTR 
Legacy Name 48C/G 
Other Details This sequence variation was found by DGGE and identified by DNA sequencing in a CF patient from Southern France, who carries the 3532AC->GTA mutation on the same chromosome and the [delta]F508 on the other allele. 48C/G doesn't modify any restriction site. 
Contributors Claustres M, Des Georges M   1998-12-08
Institute Institut de Biologie Montpellier 
Submitted Phenotype Details 48C/G is a polymorphism, found in cis with 3532AC>GTA. DeltaF508 was also found in the individual. (pers. corr. Claustres)  
Reference Claustres & Des Georges 1998 

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The Database was last updated at Apr 25, 2011