Mutation Details for c.561C>A
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cDNA Name
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c.561C>A
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Protein Name
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p.Asn187Lys
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Exon or Intron
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exon 5
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Legacy Exon or Intron
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exon 5
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N187K
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Other Details
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The mutation was detected by SSCP analysis and direct sequencing. The mutation was found in a patient affected with chronic pancreatitis, no other mutation has been identified in the patient.
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Contributors
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Arduino C,
Ferrone M,
Brusco A,
Piana M R,
Migone N
1998-11-11
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Institute
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U.O. Genetica
Medica
Torino, Italy
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Submitted Phenotype Details
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The patient (male, 37) was diagnosed at 29, is PI with chronic pancreatitis and has no lung disease.
(pers.corr.Arduino)
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Reference
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Arduino et al. 1998
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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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