Mutation Details for c.4224G>A
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cDNA Name
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c.4224G>A
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Exon or Intron
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exon 26
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Legacy Exon or Intron
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exon 23
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4356G/A
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Other Details
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Leu at 1408 (no change)
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Contributors
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Costes B,
Auloge L,
Ghanem N,
Goossens M
1993-03-22
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Institute
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Centre Hopitalier Universitaire Henri Mondor
Creteil, France
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Submitted Phenotype Details
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4356G/A (L1408L) is considered as a polymorphism. (pers. corr. Girodon)
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Reference
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Costes et al et al. (NL#54)
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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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