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