Mutation Details for c.4170delA
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cDNA Name
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c.4170delA
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Protein Name
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p.Ala1391HisfsX7
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Exon or Intron
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exon 26
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Legacy Exon or Intron
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exon 23
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4301(4302?)delA
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Other Details
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The mutation was found in a CF patient whose other mutation is [delta]F508, and we have seen it only once.
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Contributors
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Shaw H,
Hinks J,
Brownsell E,
Malone G M,
Schwarz M J
2001-07-30
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Institute
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Royal Manchester Children's Hospital
England, UK
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Submitted Phenotype Details
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The mutation was found in a patient (female) born in July 1979, carruing DeltaF508 on the other allele.
(pers. corr. Schwarz)
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Reference
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Shaw et al. 2001
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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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