Mutation Details for c.53+45A>G

cDNA Name c.53+45A>G 
Exon or Intron intron 1 
Legacy Exon or Intron intron 1 
Legacy Name 185+45A->G 
Other Details This sequence variation was detected by DGGE and identified by direct sequencing. It is not found in 100 other non-[delta]F508 CF chromosomes and 200 non-CF chromosomes tested. This variation was found in a CBAVD patient. His other CF mutation is unknown. 
Contributors Bienvenu T, Zamfir O, Bousquet S, Beldjord C   1999-05-15
Institute Laboratoire de Biochimie Génétique, Groupe Hôspitalier Cochin, France 
Submitted Phenotype Details  
Reference Bienvenu et al. 1999 

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The Database was last updated at Apr 25, 2011