Mutation Details for c.3964-3C>G

cDNA Name c.3964-3C>G 
Exon or Intron intron 24 
Legacy Exon or Intron intron 21 
Legacy Name 4096-3C->G 
Other Details This mutation was found by DGGE and identified by direct sequencing in a homozygous patient from a Lebanese family. It creates a Mnl I restriction site.  
Contributors Claustres M, Guittard C, Desgorges M, Carles S   1997-01-06
Institute Institut de Biologie Montpellier 
Submitted Phenotype Details The mutation was identified in a 4 months patient, who died at that age, with hepatic failure. She was PI, had severe lung disease with PA colonization and sweat chloride 50 mmol/l. No other mutation was identified. (pers. corr. Claustres) 
Reference Claustres et al. (NL#69) 

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The Database was last updated at Apr 25, 2011