Mutation Details for c.2655_2670delAAACACTCCTCTTCAA

cDNA Name c.2655_2670delAAACACTCCTCTTCAA 
Protein Name p.Asn886ThrfsX15 
Exon or Intron exon 16 - intron 16 
Legacy Exon or Intron exon 14b - intron 14b 
Legacy Name 2787del16 
Other Details This mutation was identified in two brother siblings with CF. 
Contributors Nulang Wang, Garry Cutting   2005-08-24
Institute Johns Hopkins University School of Medicine 
Submitted Phenotype Details The siblings (age 12 and 10) were diagnosed in the first week after birth. The elder's sweat chloride is 82mmol/l, the younger's is 81 mmol/l. Both are pancreatic insufficient. Both have mutation delta F508 

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The Database was last updated at Apr 25, 2011