Mutation Details for c.3815_3816delTG
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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.3815_3816delTG
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Protein Name
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p.Ser1273LeufsX28
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Exon or Intron
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Other Details
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Contributors and Institutes
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| Poulou Myrto, Tzetis Maria | - | Department of Medical Genetics, Athens University |
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Submitted Phenotype Details
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This mutation was identified in a CF patient presenting with classical CF symptoms. (Sweat chloride test 118meq/Lt)
The patient originates from Ukraine
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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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