Mutation Details for c.24G>A
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cDNA Name
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c.24G>A
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Exon or Intron
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exon 1
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Legacy Exon or Intron
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exon 1
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156G/A
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Other Details
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This polymorphism, which destroys a HaeIII restriction site, was detected by DGGE and direct sequencing of the normal chromosome of the mother of a CF patient from Lebanon.
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Contributors
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Claustres M,
Romey MC,
Desgeorges M
1995-12-13
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Institute
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Institut de Biologie Montpellier, France
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Submitted Phenotype Details
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156G/A is a polymorphism : found in trans of S4X in parent of CF. (pers.corr. Claustres)
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Reference
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Claustres et al (NL#67)
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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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