Mutation Details for c.131A>G
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cDNA Name
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c.131A>G
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Protein Name
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p.Asp44Gly
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Exon or Intron
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exon 2
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Legacy Exon or Intron
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exon 2
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D44G
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Other Details
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This mutation was found once among 31 [delta]F508, 63 Cf non-[delta]F508 and 37 normal chromosomes analyzed.
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Contributors
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Fanen P,
Ghanem N,
Goossens M
1991-04-30
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Institute
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Unite de Recherches en Genetiqueo Moleculaire et en Hematologie
Creteil, France
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Submitted Phenotype Details
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The patient (16y, F) was diagnosed with CF at <1y, is PI, has mild pulmonary symptoms and 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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