Mutation Details for c.3189G>A
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cDNA Name
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c.3189G>A
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Protein Name
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p.Trp1063X
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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W1063X
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Other Details
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This mutation cannot be detected by restriction enzyme analysis and they have been observed only once among 65 non-[delta]F508 CF chromosomes.
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Contributors
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Goossens M,
Fanen P,
Ghanem N,
Martin J
1991-03-27
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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 W1063X was found in a male individual also carrying 1811+1,6kbA>G on the other allele. (pers. corr. Girodon)
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Reference
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Fanen et al. 1992
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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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