Mutation Details for c.1882G>A
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cDNA Name
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c.1882G>A
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Protein Name
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p.Gly628Arg
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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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G628R(G->A)
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Other Details
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Contributors
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Fanen P,
Ghanem N,
Goossens M
1991-07-19
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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 PI male patient has severe lung disease and carries 3849+10kbC>T on the other allele. (pers. corr. Girodon)
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Reference
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Fanen et al. 1992
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