Mutation Details for c.4123C>A
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cDNA Name
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c.4123C>A
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Protein Name
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p.His1375Asn
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Exon or Intron
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exon 25
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Other Details
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Exon 22
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Contributors and Institutes
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Ludovit Kadasi | - | Genexpress Ltd, Bratislava, Slovakia |
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Submitted Phenotype Details
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Since the age of 11 have been cured for chronic pancreatitis leading to PI. No respiratory symptoms
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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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