Mutation Details for c.3874-103delT

cDNA Name c.3874-103delT 
Exon or Intron intron 23 
Legacy Exon or Intron intron 20 
Legacy Name 4006-103delT 
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. 4006-103delT was observed in a normal adult female undergoing screening due to infertility treatment for her partner who was a [delta]F508 carrier and who had CBAVD. This change is highly 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