Mutation Details for c.2600_2601insA
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cDNA Name
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c.2600_2601insA
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Protein Name
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p.Val868SerfsX28
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Exon or Intron
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exon 15
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Legacy Exon or Intron
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exon 14a
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2732insA
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Other Details
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This mutation was seen in a CF patient whose other CF mutation is [delta]F508.
The patient was referred by Dr Linda Meredith of the Medical Genetics Service for Wales.
We have seen this mutation only once in over 100 CF chromosomes screened.
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Contributors
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Andrew N,
Malone G,
Busby L,
Schwarz M
2000-02-01
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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 CF patient (male) was born in May 1996 and carries DelF508 on the other allele.
(pers. corr. Schwarz)
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Reference
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Andrew et al 2000
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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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