Mutation Details for c.1340delA
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cDNA Name
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c.1340delA
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Protein Name
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p.Lys447ArgfsX2
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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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1471delA
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Other Details
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This mutation was detected by SSCP/heteroduplex analysis and identified by direct DMNA sequencing. The mutation was found in a cystic fibrosis patient who is heterozygous for [delta]F508 and was referred by the Yorkshire Regional Genetics Service at Leeds, UK. We have seen this mutation only once in over 200 non-[delta]F508 chromosomes screened.
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Contributors
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Andrew N,
Malone G,
Schwarz M
1999-07-27
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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 male patient, carrying DelF508 on the other allele.
(pers,corr. Schwarz)
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Reference
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Andrew et al. 1999
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