Mutation Details for c.482A>C

cDNA Name c.482A>C 
Protein Name p.Tyr161Ser 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name Y161S 
Other Details This mutation was seen in a 6 year-old CF patient whose other CF mutation is [delta]F508. The mutation and polymorphism are on the same chromosome (established in the mother). We do not yet have any clinical information. The patient was referred by S.W. Thames Regional Genetics Service. We have seen this mutation and polymorphism only once in over 100 CF chromosomes screened. 
Contributors Andrew N, Malone G, Schwarz M   1999-09-02
Institute Royal Manchester Children's Hospital, England 
Submitted Phenotype Details The patient(male) carries DelF508 on the other allele. (Pers. corr. Schwarz) 
Reference Andrew et al. 1999 

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The Database was last updated at Apr 25, 2011