Mutation Details for c.2291delG
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cDNA Name
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c.2291delG
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Protein Name
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p.Arg764GlnfsX7
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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2423delG
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Other Details
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Contributors
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Romey et al.
1994-01-01
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Institute
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Laboratoire de Biochimie Genetique Montpellier, France
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Submitted Phenotype Details
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The mutation was found in a CF patient (male, 11y) diagnosed at 7 years of age. He is PI, has pulmonary disease and sweat chloride 106-120 mmol/l. He carries 1215delG on the other allele.(Romey et al. 1996)
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Reference
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Romey et al. 1994b
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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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