Mutation Details for c.3963+42T>C

cDNA Name c.3963+42T>C 
Exon or Intron intron 24 
Legacy Exon or Intron intron 21 
Legacy Name 4095+42T/C 
Other Details The presumed polymorphism was detected by SSCP/heteroduplex analysis and characterised by direct sequencing. It has not been observed previously on over 100 non-[delta]F508 CF chromosomes. 4095+42T/C was observed in a S African patient who claimed to have mild CF when young, no other mutation has been identified but we feel that this is likely to be a polymorphism. 
Contributors Wallace AJ   1996-06-21
Institute Regional Molecular Genetics Lab, St Mary's Hospital, Manchester, UK. 
Submitted Phenotype Details  
Reference Wallace (NL#69) 

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The Database was last updated at Apr 25, 2011