Mutation Details for c.3806T>A

cDNA Name c.3806T>A 
Protein Name p.Ile1269Asn 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name I1269N 
Other Details The above sequence alteration was found by SSCP analysis. I1269N was found in 2 sisters with [delta]F508 on their other allele. The mutation destroys a TaqI restriction site. 
Contributors McDowell T, Shackleton S, Harris A   1995-03-28
Institute Institute of Molecular Medicine, Oxford 
Submitted Phenotype Details  
Reference McDowell et al. (NL#66) 

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The Database was last updated at Apr 25, 2011