Mutation Details for c.2158C>T
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cDNA Name
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c.2158C>T
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Protein Name
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p.Gln720X
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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Q720X
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Other Details
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This mutation was seen in a 7 year-old CF patient whose other CF mutation is [delta]F508. We do not yet have any clinical information.
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Contributors
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Malone G,
Andrew N,
Schwarz M
1999-06-04
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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) was born in August 1963. She carries DelF508 on the other allele.
(pers. corr. Schwarz)
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Reference
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Malone et al. 1999
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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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