Mutation Details for c.1465_1468delTCAT
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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.1465_1468delTCAT
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Protein Name
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p.Phe490ValfsX36
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Exon or Intron
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Other Details
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Contributors and Institutes
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| Andrei Constantinescu, MD, PhD | - | Children's Hospital of NY - Columbia |
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Submitted Phenotype Details
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Sweat chloride 93
Pancreatic sufficient
Recurrent pancreatitis
Never Pseudomonas aeruginosa; usually grows MRSA
Normal FVC, FEV1
Mild exacerbations 1-2/year responsive to oral antibiotics
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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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