Mutation Details for c.410T>A
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cDNA Name
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c.410T>A
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Protein Name
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p.Leu137His
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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L137H
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Other Details
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The above mutation was detected by SSCP/heteroduplex analysis and characterised by direct sequencing. It was not previously observed in over 100 non-[delta]F508 CF chromosomes.
L137H was observed in an adult male presenting only with male infertility due to CBAVD. This sample was referred from the Leeds DNA lab by Lucy Ellis. His other mutation is [delta]F508.
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Contributors
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Wallace AJ
1996-06-21
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Institute
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Regional Molecular Genetics Lab,
St Mary's Hospital,
Manchester, UK.
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Submitted Phenotype Details
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Reference
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Wallace (NL#69)
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