Mutation Details for c.3600A>G
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cDNA Name
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c.3600A>G
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Protein Name
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p.Asp1201MetfsX10
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Exon or Intron
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exon 22
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Legacy Exon or Intron
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exon 19
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3732delA
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Other Details
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This mutation was found together with K1220E on the same non-[delta]F508 CF chromosome.
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Contributors
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Goossens M,
Fanen P,
Ghanem N,
Vidaud M
1990-08-21
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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 3732delA mutation was found in a 18y male diagnosed at 1y of age, also carrying 1717-1G>A on the other allele.He is PI, has moderate lung disease and positive(borderline)sweat chloride. 3732delA was in cis with 3791C/T (K1220E). (pers. corr. Girodon)
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Reference
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Fanen et al. 1992
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