Mutation Details for c.1731C>T
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cDNA Name
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c.1731C>T
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Exon or Intron
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exon 13
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Legacy Exon or Intron
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exon 12
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Y577Y (1863C/T)
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Other Details
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The mutation was detected by DGGE analysis and identified by direct DNA sequencing. The mutation was seen on the normal chromosome of a father of a CF patient. We have seen it only once, in over 100 non-[delta]F508 chromosomes screened. The DGGE primers were generously supplied by Prof. Michel Goossens on behalf of the European Community Concerted Action for the Co-ordination of Cystic Fibrosis Research and Therapy.(Original note Larder et al. 28/05/1997) NL#69
The 1863C/T was also reported as a polymorphism by Ferec et al. in January 1998 (01/01/1998).
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Contributors
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Larder R,
Byrne K,
Malone G,
Haworth A,
Schwarz M
1997-05-28
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Institute
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Royal Manchester Children's Hospital,
England
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Submitted Phenotype Details
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Y577Y was identified in a Canadian CF patient (pers.corr. Ferec)
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Reference
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Larder et al. (NL#69)
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