Mutation Details for c.1240_1244delCAAAA
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cDNA Name
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c.1240_1244delCAAAA
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Protein Name
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p.Asn415X
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Exon or Intron
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exon 10
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Legacy Exon or Intron
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exon 9
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1367del5
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Other Details
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The mutation was detected by heteroduplex analysis and identified by direct DNA sequencing. The mutation was found in a cystic fibrosis patient who is heterozygous for N1303K. We have seen this mutation only once in over 200 non-[delta]F508 chromosomes screened.
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Contributors
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Malone G M,
Andrew N,
Schwarz M
1999-02-11
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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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One CF deceased patient (female, born in 1978) diagnosed at 4y, PI, carrying N1303K on the other allele.
(pers. corr. Schwarz)
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Reference
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Malone et al. 1999
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