Mutation Details for c.197A>G
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cDNA Name
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c.197A>G
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Protein Name
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p.Asn66Ser
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Exon or Intron
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exon 3
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Legacy Exon or Intron
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exon 3
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N66S
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Other Details
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This mutation has been detected in a denaturing gradient gel and characterized by direct sequencing. It has been obeserved in a 20 year old male student, heterozygous for [delta]F508 and exoressing very mild symptoms of the disorder.
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Contributors
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Cashman S,
De Arce M,
Hayes J
1993-04-22
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Institute
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University of Dublin
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Submitted Phenotype Details
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Reference
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Cashman et al. (NL#55)
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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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