Mutation Details for c.3951delA
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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.3951delA
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Protein Name
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p.Val1318LeufsX10
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Exon or Intron
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Other Details
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Contributors and Institutes
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| Szymanczak R, Insiak K, Boguszewska-Chachulska A | - | Genomed S.A, Poland |
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Submitted Phenotype Details
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Age: 37
Ethnicity: Polish, Caucasian
Sweat chloride levels: 70 mmol/l, 90mmol/l, 60 mmol/l
Pancreatic status: pancreatitis
Infection status: recurrent infections
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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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