Mutation Details for c.1561A>C
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cDNA Name
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c.1561A>C
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Protein Name
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p.Ile521Leu
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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1693A->C
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Other Details
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This possible polymorphism was detected by DGGE and identified by DNA fluorescent sequencing in a future father from Southern France. The foetus presented an hyperechogenic bowel and he didn't carry this variation.
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Contributors
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Claustres M,
des Georges M,
Guittard C
2001-05-09
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Institute
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IURC
Montpellier
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Submitted Phenotype Details
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No additional clinical data available. (pers. corr. Claustres)
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Reference
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Claustres et al. 2001
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