Mutation Details for c.3468+5G>A

cDNA Name c.3468+5G>A 
Exon or Intron intron 21 
Legacy Exon or Intron intron 18 
Legacy Name 3600+5G->A 
Other Details The above 2 mutations were detected by DGGE using chemical clamps and identified by direct sequencing. 3600+5G->A has been found only once among 50 non-[delta]F508 CF chromosome and 50 non-CF chromosomes, whereas 3394A/G, among 100 non-[delta]F508 CF chromosome and 100 non-CF chromosomes. 
Contributors Bienvenu T, Bousquet S, Beldjord C, Kaplan J C   1995-06-08
Institute Groupe Hôspitalier Cochin, Paris 
Submitted Phenotype Details The 8 years old female patient was diagnosed at birth with meconium ileus. She is PI and has sweat chloride 110 mmol/l. The other 2 mutations are V920M and deltaF508. (pers.corr. Bienvenu) 
Reference Bienvenu et al. (NL#66) 

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The Database was last updated at Apr 25, 2011