Mutation Details for c.1439G>A

cDNA Name c.1439G>A 
Protein Name p.Gly480Asp 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name G480D 
Other Details The above mutation was detected by SSCP and identified by direct DNA sequencing. G480D was found in a CF patient from the West Midlands, who had meconium ileus and whose other chromosome carries [delta]F508; it was seen only once in 100 non-[delta]F508 chromosome screened. 
Contributors Hawworth A, Malone G, Schwarz M   1995-07-03
Institute Royal Manchester Children's Hospital, England 
Submitted Phenotype Details One female patient, born in 1995, presented with meconium ileus. She carries DelF508 on the other allele. (pers. corr. Schwarz) 
Reference Hawworth et al. (NL#66) 

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The Database was last updated at Apr 25, 2011