Mutation Details for c.2896delA

cDNA Name c.2896delA 
Protein Name p.Thr966ArgfsX2 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name 3028delA 
Other Details The mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was seen in a boy (deceased) whose other CF mutation was [delta]F508. We have seen this mutation only once in 120 samples tested. It gives a stop codon at 967. 
Contributors Malone G, Haworth A, Schwarz M   1996-06-10
Institute Royal Manchester Children's Hospital, England. 
Submitted Phenotype Details The CF patient (male, born in June 1970, deceased) carries DelF508 on the other allele. (pers. corr. Schwarz) 
Reference Malone et al. (NL#69) 

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The Database was last updated at Apr 25, 2011