Mutation Details for c.2749T>G
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cDNA Name
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c.2749T>G
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Protein Name
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p.Tyr917Asp
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Exon or Intron
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exon 17
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Legacy Exon or Intron
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exon 15
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Y917D
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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 (deceased) whose other CF mutation was [delta]F508. We have seen it only once in 120 samples tested.
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Contributors
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Schwarz M,
Malone G,
Haworth A
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 patient (male, deceased), was born in November 1968. He carried DelF508 on the other allele.
(pers. corr. Schwarz)
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Reference
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Schwarz et al. (NL#69)
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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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