Mutation Details for c.1340delA

cDNA Name c.1340delA 
Protein Name p.Lys447ArgfsX2 
Exon or Intron exon 10 
Legacy Exon or Intron exon 9 
Legacy Name 1471delA 
Other Details This mutation was detected by SSCP/heteroduplex analysis and identified by direct DMNA sequencing. The mutation was found in a cystic fibrosis patient who is heterozygous for [delta]F508 and was referred by the Yorkshire Regional Genetics Service at Leeds, UK. We have seen this mutation only once in over 200 non-[delta]F508 chromosomes screened.  
Contributors Andrew N, Malone G, Schwarz M   1999-07-27
Institute Royal Manchester Children's Hospital England 
Submitted Phenotype Details One male patient, carrying DelF508 on the other allele. (pers,corr. Schwarz) 
Reference Andrew et al. 1999 

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The Database was last updated at Apr 25, 2011