Mutation Details for c.355A>G
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cDNA Name
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c.355A>G
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Protein Name
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p.Ile119Val
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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I119V
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Other Details
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The mutation was found in a (probable) CF patient whose other mutation is as yet unidentified. The patient is a six year old girl whose symptoms appear to be confined to recurrent chest infections, but has 'high normal sweat tests'.
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Contributors
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Schwarz MJ,
Malone GM,
Brownsell E,
Hinks J
2002-06-18
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Institute
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Royal Manchester Children's Hospital
England, UK
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Submitted Phenotype Details
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Reference
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Schwarz et al. 2002
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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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