Mutation Details for c.2655_2670delAAACACTCCTCTTCAA
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cDNA Name
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c.2655_2670delAAACACTCCTCTTCAA
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Protein Name
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p.Asn886ThrfsX15
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Exon or Intron
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exon 16 - intron 16
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Legacy Exon or Intron
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exon 14b - intron 14b
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2787del16
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Other Details
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This mutation was identified in two brother siblings with CF.
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Contributors
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Nulang Wang, Garry Cutting
2005-08-24
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Institute
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Johns Hopkins University School of Medicine
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Submitted Phenotype Details
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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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Reference
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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