Mutation Details for c.3754A>C

cDNA Name c.3754A>C 
Protein Name p.Thr1252Pro 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name T1252P 
Other Details The above mutation was detected by SSCP/heteroduplex analysis and characterised by direct sequencing. None of the reported changes have been observed previously on over 100 non-[delta]F508 CF chromosomes. T1252P was observed in an 8 month old male child with CF symptoms who was referred from the Liverpool DNA lab by Roger Mountford. We have few clinical details although his other mutation is [delta]F508. T1252P destroys an RsaI site. 
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