Mutation Details for c.508C>G
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cDNA Name
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c.508C>G
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Protein Name
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p.Arg170Gly
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Exon or Intron
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exon 5
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Legacy Exon or Intron
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exon 5
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R170G
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Other Details
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This mutation was detected by SSCP. It does not alter a restriction site.
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Contributors
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Claustres M,
Laussel M,
Razakatsara G
1992-10-07
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Institute
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Laboratoire de Biochimie Genetique
Montpellier, France
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Submitted Phenotype Details
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This mutation was detected in a foetus with meconium ileus.
No other mutation was detected.
(pers. corr. Claustres)
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Reference
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Claustres et al. (NL# 49)
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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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