Mutation Details for c.1731C>A

cDNA Name c.1731C>A 
Protein Name p.Tyr577X 
Exon or Intron exon 13 
Other Details  
Contributors and Institutes
Kabir sachdeva - Sir Ganga Ram Hospital
Renu saxena - Sir Ganga Ram Hospital
I.C.Verma - Sir Ganga Ram Hospital
Submitted Phenotype Details CF patient was 2 month old male with persistent chest infection, loose motion and failure to thrive. The 1863C>A Y577X mutation on one CF chromosome and 3121-92A>G novel variation on other chromosome. 

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The Database was last updated at Apr 25, 2011