Mutation Details for c.3393_3395delTAT
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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.3393_3395delTAT
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Protein Name
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p.Ile1132del
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Exon or Intron
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Other Details
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Individual also carriers c.1584G>A variant.
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Contributors and Institutes
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| Dr. Patrick Scott, University of Alberta Hospital, Edmonton, AB | - | |
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Submitted Phenotype Details
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Dx at birth with meconium ilius. Sweat chloride test -115. Pancreatic sufficient.
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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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