Mutation Details for c.480T>A

cDNA Name c.480T>A 
Protein Name No Changes 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name 612T/A 
Other Details (Y161S) was seen in a 6 year-old CF patient whose other CF mutation is DeltaF508. 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  
Reference Andrew et al. 1999 

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The Database was last updated at Apr 25, 2011