Mutation Details for c.1505T>A

cDNA Name c.1505T>A 
Protein Name p.Ile502Asn 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name I502N 
Other Details This mutation was found in a CF patient whose other mutation is [delta]F508, and we have seen it only once. 
Contributors Hinks J, Brownsell E, Shaw H, Malone GM, Schwarz MJ   2002-01-23
Institute Royal Manchester Children's Hospital England, United Kingdom 
Submitted Phenotype Details One male CF patient, born in 1977, carrying delF508 on the other allele. (pers.corr. Schwarz) 
Reference Hinks et al. 2002 

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The Database was last updated at Apr 25, 2011