Mutation Details for c.1240_1244delCAAAA

cDNA Name c.1240_1244delCAAAA 
Protein Name p.Asn415X 
Exon or Intron exon 10 
Legacy Exon or Intron exon 9 
Legacy Name 1367del5 
Other Details The mutation was detected by heteroduplex analysis and identified by direct DNA sequencing. The mutation was found in a cystic fibrosis patient who is heterozygous for N1303K. We have seen this mutation only once in over 200 non-[delta]F508 chromosomes screened. 
Contributors Malone G M, Andrew N, Schwarz M   1999-02-11
Institute Royal Manchester Children's Hospital, England 
Submitted Phenotype Details One CF deceased patient (female, born in 1978) diagnosed at 4y, PI, carrying N1303K on the other allele. (pers. corr. Schwarz) 
Reference Malone et al. 1999 

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The Database was last updated at Apr 25, 2011