Mutation Details for c.614C>T
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cDNA Name
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c.614C>T
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Protein Name
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p.Pro205Leu
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Exon or Intron
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exon 6
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Other Details
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Contributors and Institutes
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| Schwarz MJ | - | St Mary's Hospital Manchester | | Brock JL | - | St Mary's Hospital Manchester | | Adaway M | - | St Mary's Hospital Manchester | | Shorto J | - | St Mary's Hospital Manchester | | Charlton C | - | St Mary's Hospital Manchester |
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Submitted Phenotype Details
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Nasal polyps, pancreatitis, diabetes in a 44 year-old female.
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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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