Mutation Details for c.3932_3933delinsAATATG

cDNA Name c.3932_3933delinsAATATG 
Protein Name p.Ser1311LysfsX12 
Exon or Intron exon 24 
Other Details  
Contributors and Institutes
Bulman M - Regional Molecular Genetics Laboratory St Mary’s Hospital, Manchester, England
Brownsell E - Regional Molecular Genetics Laboratory St Mary’s Hospital, Manchester, England
Schwarz MJ - Regional Molecular Genetics Laboratory St Mary’s Hospital, Manchester, England
  
Submitted Phenotype Details This twelve year old patient presented with abnormal liver function tests, two positive sweat tests and a possible diagnosis of atypical cystic fibrosis. Y563N (p.Tyr563Asn) was detected on the other chromosome. No other sequence changes were found after sequencing the entire coding region of the gene. 
Reference  

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The Database was last updated at Apr 25, 2011