Mutation Details for c.429delT

cDNA Name c.429delT 
Protein Name p.Phe143LeufsX10 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name 557delT 
Other Details This patient was originally though to have a 556 delA mutation as a BgI I site is created; howver, direct sequencing has shown the mutation to be a T deletion. The mutation was found in 1 of 276 CF chromosomes and occurs with an X2K2 haplotype as does the other mutation in this patient. 
Contributors Graham C, Goon PKC, Hill AJM, Nevin NC   1991-04-25
Institute Northern Ireland Genetics Service Belfast, N Ireland 
Submitted Phenotype Details  
Reference Graham et al. 1992 

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The Database was last updated at Apr 25, 2011