Mutation Details for c.1439G>A
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cDNA Name
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c.1439G>A
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Protein Name
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p.Gly480Asp
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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G480D
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Other Details
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The above mutation was detected by SSCP and identified by direct DNA sequencing. G480D was found in a CF patient from the West Midlands, who had meconium ileus and whose other chromosome carries [delta]F508; it was seen only once in 100 non-[delta]F508 chromosome screened.
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Contributors
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Hawworth A,
Malone G,
Schwarz M
1995-07-03
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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 female patient, born in 1995, presented with meconium ileus. She carries DelF508 on the other allele.
(pers. corr. Schwarz)
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Reference
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Hawworth et al. (NL#66)
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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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