Mutation Details for c.3806T>A
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cDNA Name
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c.3806T>A
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Protein Name
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p.Ile1269Asn
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Exon or Intron
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exon 23
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Legacy Exon or Intron
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exon 20
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I1269N
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Other Details
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The above sequence alteration was found by SSCP analysis. I1269N was found in 2 sisters with [delta]F508 on their other allele. The mutation destroys a TaqI restriction site.
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Contributors
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McDowell T,
Shackleton S,
Harris A
1995-03-28
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Institute
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Institute of Molecular Medicine,
Oxford
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Submitted Phenotype Details
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Reference
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McDowell et al. (NL#66)
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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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