Mutation Details for c.3112C>T
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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.3112C>T
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Protein Name
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p.Gln1038X
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Exon or Intron
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Other Details
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Contributors and Institutes
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mg.Malgorzata Libik, PhD-Faculty Hospital Motol,Prague, Czech Republic, Dr. Iustina Stan-NSMC Alessandrescu Rusescu, Bucharest, Prof. Milan Macek-Faculty Hospital Motol,Prague, Czech Republic | - | |
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Submitted Phenotype Details
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22 years old Romania patient, sweat test 70mmol/L, bronchiectasias, acute pankreatitis
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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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