Mutation Details for c.169T>C
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cDNA Name
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c.169T>C
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Protein Name
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p.Trp57Arg
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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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W57R
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Other Details
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The mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was seen in a female referred by the West Midland Regional Genetics Service; her other CF mutation is [delta]F508. We have seen it only once in over 200 non[delta]F508 CF chromosomes screened.
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Contributors
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Malone G,
Haworth A,
Schwarz M
1997-03-21
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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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The patient (female) carries DelF508 ion the other allele.
(pers. corr. Schwarz)
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Reference
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Malone et al. (NL#69)
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