Mutation Details for c.296C>T

cDNA Name c.296C>T 
Protein Name p.Pro99Leu 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name P99L 
Other Details This mutation was found together with [delta]F508 in a patient with extreme mild symptoms. It was found by SSCP and sequencing. 
Contributors Schwartz M, Holmberg L   1992-08-20
Institute Section of Clinical Genetics Rigshopitalet Copenhagen, Denmark 
Submitted Phenotype Details  
Reference Schwartz & Holmberg(NL#50) 

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The Database was last updated at Apr 25, 2011