Mutation Details for c.1368delT
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Note: this mutation was submitted but not yet reviewed by our curator.
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cDNA Name
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c.1368delT
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Protein Name
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p.Ala457LeufsX12
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Exon or Intron
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Other Details
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Contributors and Institutes
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Jingyi Sun | - | Xin Hua Hospital, Shanghai Jiao Tong University School of Medicine |
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Submitted Phenotype Details
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c.1367delT (p.Ala457Leufs*12) was found in a 9y F with bronchiectasis and Malnutrition. No pathogenic CFTR mutation was found on the other allele.
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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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