Mutation Details for c.1871_1878delGCTATTTT

cDNA Name c.1871_1878delGCTATTTT 
Protein Name p.Ser624IlefsX15 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2003del8 
Other Details This mutation was present in a female patient in conjuction with 1717-1G>A Patient is PI and has chronic PA infection. 
Contributors Huang Q, Yuan XW and Zielenski J   2008-07-14
Institute Department of Genetics and Genome Biology The Hospital for Sick Children, Toronto, Canada 
Submitted Phenotype Details  

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The Database was last updated at Apr 25, 2011