Mutation Details for c.4058delT
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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.4058delT
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Protein Name
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p.Leu1353X
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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 University Medical Center |
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Submitted Phenotype Details
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Sweat chloride 112 mEq/L
Pancreatic insufficient.
Bronchiectasis at age 17 yrs.
Pseudomonas aeruginosa acquired and treated; negative cultures for 8 years.
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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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