Mutation Details for c.927delC

cDNA Name c.927delC 
Protein Name p.Phe310SerfsX18 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name 1058delC 
Other Details The above mutation was detected by SSCP and identified by direct DNA sequencing. 1058delC was detected only once in 200 non-[delta]F508 chromosomes screened; the patient has [delta]F508 on the other chromosome. 
Contributors Malone G, Hawworth A, Schwarz M   1995-07-03
Institute Royal Manchester Children's Hospital, England 
Submitted Phenotype Details 2 patients, one female, one male, both carrying delF508 on the other allele. (pers.corr.Schwarz) 
Reference Malone et al. (NL#66) 

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The Database was last updated at Apr 25, 2011