Mutation Details for c.2820T>C
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cDNA Name
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c.2820T>C
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Protein Name
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p.Thr940Thr
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Exon or Intron
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exon 17
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Other Details
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Contributors and Institutes
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| Ruslan Dorfman | - | The Hospital for Sick Children, Toronto, Canada | | Julian Zielenski | - | The Hospital for Sick Children, Toronto, Canada | | Peter Durie | - | The Hospital for Sick Children, Toronto, Canada |
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Submitted Phenotype Details
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this rare polymorphism was identified in a patient with A1AT deficiency, but it is present in general population as well
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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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