Mutation Details for c.1042A>G
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cDNA Name
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c.1042A>G
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Protein Name
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p.Met348Val
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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M348V
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Other Details
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This mutation was identified in a CFTR gene mutation screening of 60 Patients with idiopathic chronic pancreatitis recruited from the region of North Rhine Westfalia in Germany.
The entire coding region of the CFTR gene was sequenced.
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Contributors
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F.U. Weiss, P. Simon, N. Bogdanova, B. Dworniczak, J. Horst, M.M. Lerch
2005-07-11
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Institute
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Clinic for Internal Medicine A
Dpt. of Gastroenterology, Endocrinology and Nutrition
Ernst Moritz Arndt-University, Greifswald, Germany
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Submitted Phenotype Details
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This female patient was diagnosed with idiopathic chronic pancreatitis at the age of 63. Genetic mutations in the PRSS1 and PSTI-1 gene were excluded by sequencing of the complete coding regions.
The patient presented with an acute episode of chronic pancreatitis. Cambridge classification of diagnostic ERCP was grade II.
(see: Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls. Weiss et al. GUT 2005 in press)
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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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