Mutation Details for c.1453A>T
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cDNA Name
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c.1453A>T
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Protein Name
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p.Ser485Cys
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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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S485C
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Other Details
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This mutation was seen in a patient with bronchiectasis and equivocal sweat test results. Her mother is Caucasian and her father is Chinese. Her other chromosome has yet to have a mutation identified and we do not yet know if the S485C is from her father or mother.
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Contributors
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Andrew N,
Malone G,
Schwarz M
1999-06-04
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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 1994, unknown other mutation on the other allele.
(pers.corr.Schwarz)
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Reference
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Andrew et al. 1999
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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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