Mutation Details for c.673T>C
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cDNA Name
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c.673T>C
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Protein Name
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p.Cys225Arg
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Exon or Intron
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exon 6
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Legacy Exon or Intron
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exon 6a
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C225R
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Other Details
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This mutation was found on one CF chromosome, in association with haplotype D. The patient (13 years old) is compound heterozygote. He carries [delta]F508 on the other chormosome and has pancreatic insufficiency.
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Contributors
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Goossens M,
Fanen P,
Ghanem N
1991-07-11
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Institute
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Unite de Recherches en Genetique Moleculaire et en Hematologie
Creteil, France
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Submitted Phenotype Details
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The mutation is reportedly associated with pancreatic insufficiency, and with mild and unusual lung disease. The mutation was identified in a 13 years old patient carrying deltaF508 on the other allele also diagnosed with asthma. (Fanen et al. 1997)
The C225R mutation was found in a 25y, male patient diagnosed at <10y, PI, with mild pulmonary disease (asthma). He carries deltaF508 on the other allele. (pers. corr. Girodon)
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Reference
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Fanen et al. 1992
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