Mutation Details for c.3308T>A
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cDNA Name
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c.3308T>A
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Protein Name
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p.Ile1103Lys
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Exon or Intron
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Other Details
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The other chromosome carries the p.Phe508del mutation.
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Contributors and Institutes
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| Angius A., Stasi M., Becchetti T., Bitetti M.R., Cardellini M.C., Porro I.,Furbetta M. | - | Istituto di Pediatria | | Lab. di Genetica Molecolare | - | Università degli Studi di Perugia |
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Submitted Phenotype Details
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The Italian patient is 14 years old, P.S., the sweat chloride value was 46 mmol/L , sodium value was 64mmol/L. He had respiratory symptoms since 6 y old. He had in the same chromosome (cis) the missense mutation p.Glu826Lys.
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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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