Mutation Details for c.3556C>T
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cDNA Name
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c.3556C>T
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Protein Name
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p.Gln1186X
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Exon or Intron
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exon 22
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Legacy Exon or Intron
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exon 19
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Q1186X
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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 boy whose other CF mutation was [delta]F508. The patient was referred by Wessex Regional Genetics Laboratory for rare mutation testing. We have seen it only once in over 150 non-[delta]F508 chromosomes tested.
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Contributors
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Haworth A,
Schwarz M,
Malone G
1996-06-10
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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 female CF patient carries DeltaF508 on the other allele.
(pers. corr. Schwarz)
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Reference
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Haworth et al. (NL#69)
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